An autosomal dominant disorder that is the most frequent form of short-limb dwarfism. Affected individuals exhibit short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and mid-face hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, GENU VARUM, and trident hand. (Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/Omim, MIM#100800, April 20, 2001)
A fibroblast growth factor receptor that regulates CHONDROCYTE growth and CELL DIFFERENTIATION. Mutations in the gene for fibroblast growth factor receptor 3 have been associated with ACHONDROPLASIA; THANATOPHORIC DYSPLASIA and NEOPLASTIC CELL TRANSFORMATION.
A severe form of neonatal dwarfism with very short limbs. All cases have died at birth or later in the neonatal period.
Developmental bone diseases are a category of skeletal disorders that arise from disturbances in the normal growth and development of bones, including abnormalities in size, shape, structure, or composition, which can lead to various musculoskeletal impairments and deformities.
Specific molecular sites or structures on cell membranes that react with FIBROBLAST GROWTH FACTORS (both the basic and acidic forms), their analogs, or their antagonists to elicit or to inhibit the specific response of the cell to these factors. These receptors frequently possess tyrosine kinase activity.
Age of the biological father.
A genetic or pathological condition that is characterized by short stature and undersize. Abnormal skeletal growth usually results in an adult who is significantly below the average height.
The religion of the Jews characterized by belief in one God and in the mission of the Jews to teach the Fatherhood of God as revealed in the Hebrew Scriptures. (Webster, 3d ed)
Tomography using x-ray transmission.
The cavity within the SPINAL COLUMN through which the SPINAL CORD passes.
The area between the EPIPHYSIS and the DIAPHYSIS within which bone growth occurs.
Abnormal development of cartilage and bone.
Devices for examining the interior of the eye, permitting the clear visualization of the structures of the eye at any depth. (UMDNS, 1999)
Congenital structural abnormalities and deformities of the musculoskeletal system.

A novel skeletal dysplasia with developmental delay and acanthosis nigricans is caused by a Lys650Met mutation in the fibroblast growth factor receptor 3 gene. (1/155)

We have identified a novel fibroblast growth factor receptor 3 (FGFR3) missense mutation in four unrelated individuals with skeletal dysplasia that approaches the severity observed in thanatophoric dysplasia type I (TD1). However, three of the four individuals developed extensive areas of acanthosis nigricans beginning in early childhood, suffer from severe neurological impairments, and have survived past infancy without prolonged life-support measures. The FGFR3 mutation (A1949T: Lys650Met) occurs at the nucleotide adjacent to the TD type II (TD2) mutation (A1948G: Lys650Glu) and results in a different amino acid substitution at a highly conserved codon in the kinase domain activation loop. Transient transfection studies with FGFR3 mutant constructs show that the Lys650Met mutation causes a dramatic increase in constitutive receptor kinase activity, approximately three times greater than that observed with the Lys650Glu mutation. We refer to the phenotype caused by the Lys650Met mutation as "severe achondroplasia with developmental delay and acanthosis nigricans" (SADDAN) because it differs significantly from the phenotypes of other known FGFR3 mutations.  (+info)

Can transvaginal fetal biometry be considered a useful tool for early detection of skeletal dysplasias in high-risk patients? (2/155)

OBJECTIVE: To evaluate the possibility of an early diagnosis of skeletal dysplasias in high-risk patients. METHODS: A total of 149 consecutive, uncomplicated singleton pregnancies at 9-13 weeks' amenorrhea, with certain menstrual history and regular cycles, were investigated with transvaginal ultrasound to establish the relationship between femur length and menstrual age, biparietal diameter and crown-rump length, using a polynomial regression model. A further eight patients with previous skeletal dysplasias in a total of 13 pregnancies were evaluated with serial examinations every 2 weeks from 10-11 weeks. RESULTS: A significant correlation between femur length and crown-rump length and biparietal diameter was found, whereas none was observed between femur length and menstrual age. Of the five cases with skeletal dysplasias, only two (one with recurrent osteogenesis imperfecta and one with recurrent achondrogenesis) were diagnosed in the first trimester. CONCLUSIONS: An early evaluation of fetal morphology in conjunction with the use of biometric charts of femur length against crown-rump length and femur length against biparietal diameter may be crucial for early diagnosis of severe skeletal dysplasias. By contrast, in less severe cases, biometric evaluation appears to be of no value for diagnosis.  (+info)

A mouse model for achondroplasia produced by targeting fibroblast growth factor receptor 3. (3/155)

Achondroplasia, the most common form of dwarfism in man, is a dominant genetic disorder caused by a point mutation (G380R) in the transmembrane region of fibroblast growth factor receptor 3 (FGFR3). We used gene targeting to introduce the human achondroplasia mutation into the murine FGFR3 gene. Heterozygotes for this point mutation that carried the neo cassette were normal whereas neo+ homozygotes had a phenotype similar to FGFR3-deficient mice, exhibiting bone overgrowth. This was because of interference with mRNA processing in the presence of the neo cassette. Removal of the neo selection marker by Cre/loxP recombination yielded a dominant dwarf phenotype. These mice are distinguished by their small size, shortened craniofacial area, hypoplasia of the midface with protruding incisors, distorted brain case with anteriorly shifted foramen magnum, kyphosis, and narrowed and distorted growth plates in the long bones, vertebrae, and ribs. These experiments demonstrate that achondroplasia results from a gain-of-FGFR3-function leading to inhibition of chondrocyte proliferation. These achondroplastic dwarf mice represent a reliable and useful model for developing drugs for potential treatment of the human disease.  (+info)

Gly369Cys mutation in mouse FGFR3 causes achondroplasia by affecting both chondrogenesis and osteogenesis. (4/155)

Missense mutations in fibroblast growth factor receptor 3 (FGFR3) result in several human skeletal dysplasias, including the most common form of dwarfism, achondroplasia. Here we show that a glycine-to-cysteine substitution at position 375 (Gly375Cys) in human FGFR3 causes ligand-independent dimerization and phosphorylation of FGFR3 and that the equivalent substitution at position 369 (Gly369Cys) in mouse FGFR3 causes dwarfism with features mimicking human achondroplasia. Accordingly, homozygous mice were more severely affected than heterozygotes. The resulting mutant mice exhibited macrocephaly and shortened limbs due to retarded endochondral bone growth and premature closure of cranial base synchondroses. Compared with their wild-type littermates, mutant mice growth plates shared an expanded resting zone and narrowed proliferating and hypertrophic zones, which is correlated with the activation of Stat proteins and upregulation of cell-cycle inhibitors. Reduced bone density is accompanied by increased activity of osteoclasts and upregulation of genes that are related to osteoblast differentiation, including osteopontin, osteonectin, and osteocalcin. These data reveal an essential role for FGF/FGFR3 signals in both chondrogenesis and osteogenesis during endochondral ossification.  (+info)

Report of five novel and one recurrent COL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorder. (5/155)

Achondrogenesis II-hypochondrogenesis and severe spondyloepiphyseal dysplasia congenita (SEDC) are lethal forms of dwarfism caused by dominant mutations in the type II collagen gene (COL2A1). To identify the underlying defect in seven cases with this group of conditions, we used the combined strategy of cartilage protein analysis and COL2A1 mutation analysis. Overmodified type II collagen and the presence of type I collagen was found in the cartilage matrix of all seven cases. Five patients were heterozygous for a nucleotide change that predicted a glycine substitution in the triple helical domain (G313S, G517V, G571A, G910C, G943S). In all five cases, analysis of cartilage type II collagen suggested incorporation of the abnormal alpha1(II) chain in the extracellular collagen trimers. The G943S mutation has been reported previously in another unrelated patient with a strikingly similar phenotype, illustrating the possible specific effect of the mutation. The radiographically less severely affected patient was heterozygous for a 4 bp deletion in the splice donor site of intron 35, likely to result in aberrant splicing. One case was shown to be heterozygous for a single nucleotide change predicted to result in a T1191N substitution in the carboxy-propeptide of the proalpha1(II) collagen chain. Study of the clinical, radiographic, and morphological features of the seven cases supports evidence for a phenotypic continuum between achondrogenesis II-hypochondrogenesis and lethal SEDC and suggests a relationship between the amount of type I collagen in the cartilage and the severity of the phenotype.  (+info)

A cartilage oligomeric matrix protein mutation associated with pseudoachondroplasia changes the structural and functional properties of the type 3 domain. (6/155)

Cartilage oligomeric matrix protein (COMP) is a member of the thrombospondin family of extracellular matrix glycoproteins. All members of the family contain a highly conserved region of thrombospondin type 3 sequence repeats that bind calcium. A mutation in COMP previously identified in a patient with pseudoachondroplasia resulted in abnormal sequestration of COMP in distinctive rER vesicles. The mutation, Asp-446 --> Asn, is located in the type 3 repeats of the molecule. This region was expressed in a mammalian culture with and without the mutation to study the structural or functional properties associated with the mutation. The biophysical parameters of the mutant peptide were compared with those of the wild type and revealed the following difference: secondary structural analysis by circular dichroism showed more alpha-helix content in the wild-type peptides. The calcium binding properties of the two peptides were significantly different; there were 17 calcium ions bound/wild-type COMP3 peptide compared with 8/mutant peptide. In addition, wild-type COMP3 had a higher affinity for calcium and bound calcium more cooperatively. Calcium bound by the wild-type peptide was reflected in a structural change as indicted by velocity sedimentation. Thus, the effect of the COMP mutation appears to profoundly alter the calcium binding properties and may account for the difference observed in the structure of the type 3 domain. Furthermore, the highly cooperative binding of calcium to COMP3 suggests that these type 3 sequence repeats form a single protein domain, the thrombospondin type 3 domain.  (+info)

Disability, gene therapy and eugenics--a challenge to John Harris. (7/155)

This article challenges the view of disability presented by Harris in his article, "Is gene therapy a form of eugenics?" It is argued that his definition of disability rests on an individual model of disability, where disability is regarded as a product of biological determinism or "personal tragedy" in the individual. Within disability theory this view is often called "the medical model" and it has been criticised for not being able to deal with the term "disability", but only with impairment. The individual model of disability presupposes a necessary causal link between a certain condition in the individual and disablement. The shortcomings of such a view of disability are stated and it is argued that in order to have an adequate ethical discourse on gene therapy perspectives from disability research need to be taken into consideration.  (+info)

Molecular cloning and expression patterns of mouse cartilage oligomeric matrix protein gene. (8/155)

OBJECTIVE: To develop transgenic mice harboring mutations in the COMP gene as animal models for pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia (MED), autosomal dominant disorders characterized by early onset osteoarthritis and epiphyseal abnormalities. As a first step in generating a mouse model for COMP mutations, we have cloned the cDNA of mouse COMP and examined its tissue expression pattern. DESIGN: Total mRNA was isolated from the skeletal tissues of newborn C57BL/6j mice and used as a template for oligo(dT) first-strand cDNA synthesis. The cDNA was used for PCR amplification of COMP using three oligonucleotide primer pairs designed from the published rat COMP cDNA sequence. Nested PCR was used to complete the sequence between the amplified fragments. The entire cDNA was sequenced and the expression pattern of the corresponding transcripts examined by Northern hybridizations. RESULTS: A full-length COMP cDNA was isolated. Analysis showed that the entire translated region of the mouse COMP gene is 2268 bp and the derived amino acid sequence shows 90% homology to human COMP. Of eight adult mouse non-cartilage tissues tested, COMP expression was detected only in testis.  (+info)

Achondroplasia is a genetic disorder that affects bone growth, leading to dwarfism. It is the most common form of short-limbed dwarfism and is caused by a mutation in the FGFR3 gene. This mutation results in impaired endochondral ossification, which is the process by which cartilage is converted into bone.

People with achondroplasia have a characteristic appearance, including:

* Short stature (typically less than 4 feet, 4 inches tall)
* Disproportionately short arms and legs
* Large head with a prominent forehead and flat nasal bridge
* Short fingers with a gap between the middle and ring fingers (known as a trident hand)
* Bowing of the lower legs
* A swayed back (lordosis)

Achondroplasia is usually inherited in an autosomal dominant manner, which means that a child has a 50% chance of inheriting the disorder if one parent has it. However, about 80% of cases result from new mutations in the FGFR3 gene and occur in people with no family history of the condition.

While achondroplasia can cause various medical issues, such as breathing difficulties, ear infections, and spinal cord compression, most individuals with this condition have normal intelligence and a typical lifespan. Treatment typically focuses on managing specific symptoms and addressing any related complications.

Fibroblast Growth Factor Receptor 3 (FGFR3) is a type of cell surface receptor that binds to fibroblast growth factors (FGFs), which are signaling proteins involved in various biological processes such as cell division, growth, and wound healing.

FGFR3 is a transmembrane protein with an extracellular domain that contains the binding site for FGFs, a transmembrane domain, and an intracellular tyrosine kinase domain that activates downstream signaling pathways upon FGF binding.

Mutations in the FGFR3 gene have been associated with several human genetic disorders, including thanatophoric dysplasia, achondroplasia, and hypochondroplasia, which are characterized by abnormal bone growth and development. In these conditions, gain-of-function mutations in FGFR3 lead to increased receptor activity and activation of downstream signaling pathways, resulting in impaired endochondral ossification and short-limbed dwarfism.

In addition to its role in bone growth and development, FGFR3 has been implicated in the regulation of cell proliferation, differentiation, and survival in various tissues, including the brain, lung, and kidney. Dysregulation of FGFR3 signaling has also been associated with cancer, including bladder, breast, and cervical cancers.

Thnanatophoric Dysplasia is a severe skeletal disorder characterized by extreme short limbs, a narrow chest, and large head. It is one of the most common types of short-limbed dwarfism. The name "thanatophoric" comes from the Greek word thanatos, meaning death, as this condition is often lethal in the newborn period or shortly thereafter due to respiratory distress.

The disorder is caused by mutations in the FGFR3 gene, which provides instructions for making a protein that is part of a group of proteins called fibroblast growth factor receptors. These receptors play critical roles in many important processes during embryonic development, such as controlling bone growth.

There are two major types of thanatophoric dysplasia: type I and type II. Type I is characterized by curved thigh bones (femurs) and a clover-leaf shaped skull. Type II is characterized by straight femurs and an unossified (not fully developed) vertebral column.

The diagnosis of thanatophoric dysplasia can be made prenatally through ultrasound examination or postnatally through physical examination, X-rays, and genetic testing. Unfortunately, due to the severity of the condition, there is no cure for thanatophoric dysplasia and management is supportive in nature, focusing on providing comfort and addressing any complications that may arise.

Developmental bone diseases are a group of medical conditions that affect the growth and development of bones. These diseases are present at birth or develop during childhood and adolescence, when bones are growing rapidly. They can result from genetic mutations, hormonal imbalances, or environmental factors such as poor nutrition.

Some examples of developmental bone diseases include:

1. Osteogenesis imperfecta (OI): Also known as brittle bone disease, OI is a genetic disorder that affects the body's production of collagen, a protein necessary for healthy bones. People with OI have fragile bones that break easily and may also experience other symptoms such as blue sclerae (whites of the eyes), hearing loss, and joint laxity.
2. Achondroplasia: This is the most common form of dwarfism, caused by a genetic mutation that affects bone growth. People with achondroplasia have short limbs and a large head relative to their body size.
3. Rickets: A condition caused by vitamin D deficiency or an inability to absorb or use vitamin D properly. This leads to weak, soft bones that can bow or bend easily, particularly in children.
4. Fibrous dysplasia: A rare bone disorder where normal bone is replaced with fibrous tissue, leading to weakened bones and deformities.
5. Scoliosis: An abnormal curvature of the spine that can develop during childhood or adolescence. While not strictly a developmental bone disease, scoliosis can be caused by various underlying conditions such as cerebral palsy, muscular dystrophy, or spina bifida.

Treatment for developmental bone diseases varies depending on the specific condition and its severity. Treatment may include medication, physical therapy, bracing, or surgery to correct deformities and improve function. Regular follow-up with a healthcare provider is essential to monitor growth, manage symptoms, and prevent complications.

Fibroblast growth factor (FGF) receptors are a group of cell surface tyrosine kinase receptors that play crucial roles in various biological processes, including embryonic development, tissue repair, and tumor growth. There are four high-affinity FGF receptors (FGFR1-4) in humans, which share a similar structure, consisting of an extracellular ligand-binding domain, a transmembrane region, and an intracellular tyrosine kinase domain.

These receptors bind to FGFs with different specificities and affinities, triggering a cascade of intracellular signaling events that regulate cell proliferation, differentiation, migration, and survival. Aberrant FGFR signaling has been implicated in several diseases, such as cancer, developmental disorders, and fibrotic conditions. Dysregulation of FGFRs can occur through various mechanisms, including genetic mutations, amplifications, or aberrant expression, leading to uncontrolled cell growth and malignant transformation. Therefore, FGFRs are considered promising targets for therapeutic intervention in several diseases.

"Paternal age" is a term used to describe the age of a father at the time of conception. It is often considered in relation to the potential impact on genetic health and the risk of certain genetic conditions in offspring. As a father's age increases, there is a higher chance of mutations occurring during the formation of sperm cells, which can potentially lead to an increased risk of certain genetic disorders such as Apert syndrome, Crouzon syndrome, and Schinzel-Giedion midface retraction syndrome. However, it is important to note that while the risk does increase with paternal age, the overall likelihood remains relatively low.

Dwarfism is a medical condition that is characterized by short stature, typically with an adult height of 4 feet 10 inches (147 centimeters) or less. It is caused by a variety of genetic and medical conditions that affect bone growth, including skeletal dysplasias, hormonal deficiencies, and chromosomal abnormalities.

Skeletal dysplasias are the most common cause of dwarfism and are characterized by abnormalities in the development and growth of bones and cartilage. Achondroplasia is the most common form of skeletal dysplasia, accounting for about 70% of all cases of dwarfism. It is caused by a mutation in the fibroblast growth factor receptor 3 (FGFR3) gene and results in short limbs, a large head, and a prominent forehead.

Hormonal deficiencies, such as growth hormone deficiency or hypothyroidism, can also cause dwarfism if they are not diagnosed and treated early. Chromosomal abnormalities, such as Turner syndrome (monosomy X) or Down syndrome (trisomy 21), can also result in short stature and other features of dwarfism.

It is important to note that people with dwarfism are not "dwarves" - the term "dwarf" is a medical and sociological term used to describe individuals with this condition, while "dwarves" is a term often used in fantasy literature and media to refer to mythical beings. The use of the term "dwarf" can be considered disrespectful or offensive to some people with dwarfism, so it is important to use respectful language when referring to individuals with this condition.

I'm sorry for any confusion, but "Judaism" is not a medical term. It is a religion, ethnicity, and culture originating in the Judaea region of the Middle East. Judaism is based on the teachings of the Torah and the Talmud, and it includes various practices, beliefs, and traditions. If you have any questions about medical terminology or health-related topics, I would be happy to try to help answer those for you.

X-ray tomography, also known as computed tomography (CT) or computerized axial tomography (CAT), is a medical imaging technique that uses X-rays to create detailed cross-sectional images of the body. In this technique, an X-ray source and detectors rotate around the patient, acquiring multiple X-ray projections at different angles. A computer then processes these projections to reconstruct tomographic images (slices) of the internal structures of the body, such as bones, organs, and soft tissues.

The term "tomography" comes from the Greek words "tome," meaning slice or section, and "graphein," meaning to write or record. X-ray tomography allows radiologists and other medical professionals to visualize and diagnose various conditions, such as fractures, tumors, infections, and internal injuries, more accurately and efficiently than with traditional X-ray imaging techniques.

It is important to note that while X-ray tomography provides valuable diagnostic information, it does involve exposure to ionizing radiation. Therefore, the benefits of the examination should outweigh the potential risks, and the use of this technique should be justified based on clinical necessity and patient safety considerations.

The spinal canal is the bony, protective channel within the vertebral column that contains and houses the spinal cord. It extends from the foramen magnum at the base of the skull to the sacrum, where the spinal cord ends and forms the cauda equina. The spinal canal is formed by a series of vertebral bodies stacked on top of each other, intervertebral discs in between them, and the laminae and spinous processes that form the posterior elements of the vertebrae. The spinal canal provides protection to the spinal cord from external trauma and contains cerebrospinal fluid (CSF) that circulates around the cord, providing nutrients and cushioning. Any narrowing or compression of the spinal canal, known as spinal stenosis, can cause various neurological symptoms due to pressure on the spinal cord or nerve roots.

A growth plate, also known as an epiphyseal plate or physis, is a layer of cartilaginous tissue found near the ends of long bones in children and adolescents. This region is responsible for the longitudinal growth of bones during development. The growth plate contains actively dividing cells that differentiate into chondrocytes, which produce and deposit new matrix, leading to bone elongation. Once growth is complete, usually in late adolescence or early adulthood, the growth plates ossify (harden) and are replaced by solid bone, transforming into the epiphyseal line.

Osteochondrodysplasias are a group of genetic disorders that affect the development of bones and cartilage. These conditions can result in dwarfism or short stature, as well as other skeletal abnormalities. Osteochondrodysplasias can be caused by mutations in genes that regulate bone and cartilage growth, and they are often characterized by abnormalities in the shape, size, and/or structure of the bones and cartilage.

There are many different types of osteochondrodysplasias, each with its own specific symptoms and patterns of inheritance. Some common examples include achondroplasia, thanatophoric dysplasia, and spondyloepiphyseal dysplasia. These conditions can vary in severity, and some may be associated with other health problems, such as respiratory difficulties or neurological issues.

Treatment for osteochondrodysplasias typically focuses on managing the symptoms and addressing any related health concerns. This may involve physical therapy, bracing or surgery to correct skeletal abnormalities, and treatment for any associated medical conditions. In some cases, genetic counseling may also be recommended for individuals with osteochondrodysplasias and their families.

An ophthalmoscope is a medical device used by healthcare professionals to examine the interior structures of the eye, including the retina, optic disc, and vitreous humor. It consists of a handle with a battery-powered light source and a head that contains lenses for focusing. When placed in contact with the patient's dilated pupil, the ophthalmoscope allows the examiner to visualize the internal structures of the eye and assess their health. Ophthalmoscopes are commonly used in routine eye examinations, as well as in the diagnosis and management of various eye conditions and diseases.

Musculoskeletal abnormalities refer to structural and functional disorders that affect the musculoskeletal system, which includes the bones, muscles, cartilages, tendons, ligaments, joints, and other related tissues. These abnormalities can result from genetic factors, trauma, overuse, degenerative processes, infections, or tumors. They may cause pain, stiffness, limited mobility, deformity, weakness, and susceptibility to injuries. Examples of musculoskeletal abnormalities include osteoarthritis, rheumatoid arthritis, scoliosis, kyphosis, lordosis, fractures, dislocations, tendinitis, bursitis, myopathies, and various congenital conditions.

Look up achondroplasia in Wiktionary, the free dictionary. Achondroplasia at Curlie Pauli RM (1998). "Achondroplasia". In Pagon ... Where achondroplasia is inherited, its pattern is autosomal dominant. In couples where one partner has achondroplasia there is ... Achondroplasia includes the extremely rare short-limb skeletal dysplasia with severe combined immunodeficiency. Achondroplasia ... In situations where both parents have achondroplasia there is a 50% chance the child will have achondroplasia, 25% chance the ...
More than 250,000 people in the world are diagnosed with achondroplasia. Achondroplasia diagnosis occurs somewhere between one ... Achondroplasia in children is the most common form of dwarfism; it accounts for about 70% of all cases of dwarfism. ... Some symptoms of achondroplasia are short stature, a long and narrow trunk, shortening of the proximal segments of limbs, large ... Achondroplasia is defined by central nervous system defects as well as the prior physical symptoms. Average height for an adult ...
Achondroplasia is a form of short-limbed dwarfism. This type of dwarfism is caused by the inability of the cartilage of the ... Severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN) is a very rare genetic disorder. This disorder ... "Orphanet: Severe achondroplasia developmental delay acanthosis nigricans syndrome". www.orpha.net. Retrieved 24 October 2019. " ... "OMIM Entry - # 616482 - ACHONDROPLASIA, SEVERE, WITH DEVELOPMENTAL DELAY AND ACANTHOSIS NIGRICANS; SADDAN". omim.org. Retrieved ...
Achondroplasia is a dominant genetic disorder caused by mutations in FGFR3 that make the resulting protein overactive. ... "Achondroplasia". Genetic and Rare Diseases Information Center (GARD). "FGFR3 gene". Genetics Home Reference. U.S. National ... Only a single copy of the mutated FGFR3 gene results in achondroplasia. It is generally caused by spontaneous mutations in germ ... "Learning about Achondroplasia". National Human Genome Research Institute. Retrieved July 15, 2016. Karczeski B, Cutting GR ( ...
Achondroplasia is a mutation in the fibroblast growth factor receptor 3. In the context of achondroplasia, this mutation causes ... Achondroplasia is an autosomal dominant disorder caused by the presence of an altered allele in the genome. If a pair of ... In achondroplasia one has an average-sized trunk with short limbs and a larger forehead. Facial features are often affected and ... In achondroplasia the body's limbs are proportionately shorter than the trunk (abdominal area), with a larger head than average ...
COL2A1 Achondroplasia; 100800; FGFR3 Achromatopsia-2; 216900; CNGA3 Achromatopsia-3; 262300; CNGB3 Acrocallosal syndrome; ...
He had achondroplasia. He inherited the baronetcy in 1980 on the death of his father. The title passed to the eldest of his ...
Achondroplasia "Schneckenbecken dysplasia". rarediseases.org. "Schneckenbecken dysplasia - About the Disease - Genetic and Rare ...
Hecht, Jacqueline T.; Butler, Ian J. (1990). "Neurologic Morbidity Associated With Achondroplasia". Journal of Child Neurology ... including achondroplasia. Because most children with MPS I (Hurler Syndrome) also exhibit symptoms of a gibbus deformity, the ...
"Josh Ryan Evans and Achondroplasia". About.com. Archived from the original on 2008-01-13. Retrieved 2008-01-03. Susman, Gary ( ...
He was born with achondroplasia. Williams was born with achondroplasia, a type of dwarfism. His condition plays a large part in ...
She was born with achondroplasia. Clipsham's work has been widely exhibited, including the Center for Book Arts: The First ...
"Audiological findings of patients with achondroplasia". International Journal of Pediatric Otorhinolaryngology. 3 (2): 129-135 ...
Achondroplasia Multiple epiphyseal dysplasia Mucopolysaccharidosis Other causes of genu valgum (knock knees) or genu varum (bow ... 1995). Achondroplasia Dwarfism Reference, Genetics Home. "pseudoachondroplasia". Genetics Home Reference. Retrieved 2017-09-27 ... Though similarities in nomenclature may cause confusion, pseudoachondroplasia should not be confused with achondroplasia, which ... This is an important differentiating feature between pseudoachondroplasia and achondroplasia. Odontoid hypoplasia may occur ...
The genetic mutation causing the short-legged trait in Munchkins is referred to as achondroplasia, the genetic disorder that ... So she began breeding Munchkins "Achondroplasia". Genetics Home Reference. U.S. Department of Health & Human Services. ... achondroplasia. The Governing Council of the Cat Fancy likewise refuses to recognize the breed, considering this breed and ... a variety of cat with a gene causing osteochondrodysplasia rather than achondroplasia. Welsh Corgi, a dog breed with a similar ...
Achondroplasia List of congenital disorders "Hypochondroplasia , Genetic and Rare Diseases Information Center (GARD) - an NCATS ...
Acuña has achondroplasia, a form of dwarfism. Born in Pisa, Italy, Acuña grew up in Torrance, California, and attended North ...
Another son, Barry, was born with achondroplasia. Gerald Desmond (1916-2000) Sheila Mary Norma (1918-2000) Enid Veronica (1919- ...
He has achondroplasia and uses a wheelchair. Son of Sir William Geoffrey Shakespeare, 2nd Baronet, and Susan Mary, daughter of ... He has two children, both of whom also have achondroplasia; his daughter Ivy is a social worker, and his son Robert is a civil ... who was also born with achondroplasia. His mother was a nurse of Sri Lankan Burgher descent. Shakespeare was educated at Radley ...
She was born in Geelong with achondroplasia dwarfism. She competed in four events at the 2004 Athens Games and won a gold medal ...
SH6: Athletes who have achondroplasia and short stature. Ranking period starts from January 2023 and ends in March 2024. ...
"FGFR3 mutation causes abnormal membranous ossification in achondroplasia". Hum. Mol. Genet. 23 (11): 2914-25. doi:10.1093/hmg/ ...
He has achondroplasia, a common cause of dwarfism. He retired from all of his other political jobs to be a senator. On 9 April ...
Wright M J (September 2000). "Achondroplasia and nail-patella syndrome: the compound phenotype". Journal of Medical Genetics. ...
Achondroplasia Achondrogenesis Autosomal recessive multiple epiphyseal dysplasia Osteochondrodysplasia "UniProt". www.uniprot. ...
They can also develop achondroplasia, cryptorchidism, and degenerative myelopathy. The Northern Inuit Society, founded in the ...
She was born with achondroplasia, a form of dwarfism. She represented the Netherlands at the 2016 Summer Paralympics in Rio de ...
He was born with achondroplasia, a form of dwarfism. At the 2019 World Para Powerlifting Championships held in Nur-Sultan, ...
Achondroplasia is a type of autosomal dominant genetic disorder that is the most common cause of dwarfism. It is also the most ... In achondroplasia the dwarfism is readily apparent at birth. likewise, craniofacial abnormalities in the form of macrocephaly ... Wynn J, King TM, Gambello MJ, Waller DK, Hecht JT (2007). "Mortality in achondroplasia study: A 42-year follow up". Am. J. Med ... The presence of epiphyseal changes serves as an important differentiating feature from achondroplasia. COL1A1/2-related ...
"Achondroplasia is defined by recurrent G380R mutations of FGFR3". American Journal of Human Genetics. 56 (2): 368-373. ISSN ... The Achondroplasia Family of Skeletal Dysplasias, Muenke Craniosynostosis, and Crouzon Syndrome with Acanthosis Nigricans*". ...
Look up achondroplasia in Wiktionary, the free dictionary. Achondroplasia at Curlie Pauli RM (1998). "Achondroplasia". In Pagon ... Where achondroplasia is inherited, its pattern is autosomal dominant. In couples where one partner has achondroplasia there is ... Achondroplasia includes the extremely rare short-limb skeletal dysplasia with severe combined immunodeficiency. Achondroplasia ... In situations where both parents have achondroplasia there is a 50% chance the child will have achondroplasia, 25% chance the ...
Achondroplasia is a form of short-limbed dwarfism. Explore symptoms, inheritance, genetics of this condition. ... Achondroplasia is similar to another skeletal disorder called hypochondroplasia, but the features of achondroplasia tend to be ... All people with achondroplasia have short stature. Without treatment, the average height of an adult male with achondroplasia ... Achondroplasia is the most common form of short-limbed dwarfism. The word achondroplasia means "without cartilage formation." ...
Achondroplasia is the most common form of skeletal displasia and slows down the growth of bone in the cartilage in growth ... What is achondroplasia?. Achondroplasia is a genetic condition affecting a protein in the body called the fibroblast growth ... Achondroplasia Diagnosis. Achondroplasia can be diagnosed before birth by fetal ultrasound or after birth by complete medical ... Achondroplasia Symptoms. The following are the most common symptoms of achondroplasia; however, each child may experience the ...
Achondroplasia is caused by a mutation in the fibroblast growth factor receptor 3 (FGFR3) gene that leads to inhibited ... As a parent of a child with achondroplasia, I see the availability of treatments that impact bone growth as an important step ... "Achondroplasia is a lifelong genetic condition resulting from the disordered skeletal architecture caused by impaired ... The indication is for children aged 5 years and older who have achondroplasia and open epiphyses (growth plates), meaning that ...
encoded search term (Achondroplasia) and Achondroplasia What to Read Next on Medscape ... Approximately 10,000 individuals are estimated to have achondroplasia in the United States. Worldwide, achondroplasia is the ... About 80% of all "little people" have achondroplasia. Approximately 150,000 persons have achondroplasia worldwide. The ... Achondroplasia: A Multidisciplinary Conversation on Comprehensive Care 0.75 CME Credits You are being redirected to Medscape ...
Achondroplasia is a genetic bone disorder, affecting one in 20,000 babies. Learn more from Boston Childrens Hospital. ... Achondroplasia , Diagnosis & Treatments. How is achondroplasia diagnosed?. Achondroplasia can be diagnosed before birth by ... Achondroplasia , Symptoms & Causes. What are the symptoms of achondroplasia?. The following are the most common symptoms of ... Achondroplasia , Research & Innovation. Areas of innovation for achondroplasia. Researchers are looking into a family of genes ...
ACHieve: A multi-center, longitudinal, observational study of children with achondroplasia Bookmark [insert headline / title ...
What is achondroplasia in a child?. Achondroplasia is the most common type of rare genetic bone disorder. The strong, flexible ... What causes achondroplasia in children?. Achondroplasia is a genetic disease. It is an autosomal dominant disease. This means ... How is achondroplasia diagnosed in a child?. Achondroplasia can be diagnosed before birth by fetal ultrasound. This test uses ... Which children are at risk for achondroplasia?. Having a parent with achondroplasia increases the risk of being born with the ...
Similar words for Achondroplasia. Definition: noun. an inherited skeletal disorder beginning before birth; cartilage is ... 1. achondroplasia noun. an inherited skeletal disorder beginning before birth; cartilage is converted to bone resulting in ...
encoded search term (Achondroplasia) and Achondroplasia What to Read Next on Medscape ... Approximately 10,000 individuals are estimated to have achondroplasia in the United States. Worldwide, achondroplasia is the ... About 80% of all "little people" have achondroplasia. Approximately 150,000 persons have achondroplasia worldwide. The ... Achondroplasia: A Multidisciplinary Conversation on Comprehensive Care 0.75 CME Credits You are being redirected to Medscape ...
... s global phase 2 study for vosoritide for the treatment of infants and young children with achondroplasia. ... Achondroplasia is a skeletal dysplasia and is characterized by the failure of normal conversion of cartilage into bone, ... First Patient Dosed in Phase 2 Study of Vosoritide For Infants with Achondroplasia. Jun 18, 2018. Krista Rossi ... We are pleased to have initiated this study in the youngest people with achondroplasia," added Dr Fuchs, "we and are grateful ...
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Category: Achondroplasia. Court Dwarfs: Nano Morgante. June 13, 2022 By arne hendriks Off Surely one of the most remarkable ... Short-statured people, dwarfs and people with achondroplasia play a significant role in Maya mythology because it is believed ...
Achondroplasia market in 7MM is expected to show a positive growth, during the forecast period (2023-2032), owing to new ... Japan: Achondroplasia Market Outlook. The total Achondroplasia market size and market size by therapies in Japan is also ... Achondroplasia Market Insights:. *What was the Achondroplasia drug class share (%) distribution in 2019 and how it would look ... Achondroplasia Market Report Highlights. *In the coming years, the Achondroplasia market is set to change due to the rising ...
Parents of children with achondroplasia syndrome contacted the Public Defender and asked for help in ensuring treatment for ... Following Public Defenders Mediation, Representative of Parents of Children with Achondroplasia Syndrome will be Involved in ... where a representative of parents of children with achondroplasia syndrome will be involved in the process of developing ... national guidelines, protocols and recommendations for the effective management and treatment of achondroplasia syndrome ...
Beyond Achondroplasia shares the bridges that clarifies what happens inside the body and outside it, in the family and society. ... Achondroplasia is a rare bone condition that originates systemic effects that go beyond a growth problem. ... Survey about achondroplasia. We have designed a questionnaire with the purpose to better know the population connected to ... The data obtained will be used for statistical purposes and to better understand the natural history of achondroplasia. Please ...
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Achondroplasia affects about 1 in 15,000 to 1 in 40,000 babies. Most babies born with achondroplasia live a normal life span, ... What causes achondroplasia?. A gene change (also called a mutation) causes achondroplasia. Genes are parts of your bodys cells ... What health problems can achondroplasia cause and how are they treated?. People with achondroplasia can have a range of health ... Achondroplasia. The most common form of disproportionate growth retardation, achondroplasia is recognizable at birth and after ...
encoded search term (Achondroplasia) and Achondroplasia What to Read Next on Medscape ... Achondroplasia Differential Diagnoses. Updated: May 02, 2014 * Author: Shital Parikh, MD; Chief Editor: Dennis P Grogan, MD ... Mortality in achondroplasia study: A 42-year follow-up. Am J Med Genet A. 2007 Nov 1. 143(21):2502-11. [QxMD MEDLINE Link]. ... The diagnosis of achondroplasia in the fetus is made with certainty when one or both parents have this condition. In situations ...
Achondroplasia. [/et_pb_text][et_pb_text _builder_version="4.4.8″]. Disease definition. Achondroplasia is the most common form ... If one parent has achondroplasia there is a 50% chance of passing it on to offspring. In 80% of cases, it is due to a de novo ... Achondroplasiaelena2020-07-27T18:59:40+02:00 [et_pb_section fb_built="1″ admin_label="section" _builder_version="3.22″][et_pb_ ... Homozygous achondroplasia is a lethal condition.. Management and treatment. Management is multidisciplinary and anticipatory ...
Achondroplasia Management. There is no known cure for achondroplasia even though the cause of the mutation has been found. ... Diagnosis for Achondroplasia. Achondroplasia is the result of a mutation in the fibroblast growth factor receptor 3 (FGFR3) ... Achondroplasia and Sciatica. Individuals with achondroplasia commonly experience back pain, which may often progress to ... Achondroplasia is a genetic disorder that leads to dwarfism. In those with the condition, the legs and arms are short, while ...
Achondroplasia is the most common type of short-limb disproportionate dwarfism. The term achondroplasia, implying absent ... encoded search term (Achondroplasia) and Achondroplasia What to Read Next on Medscape ... Mortality in achondroplasia study: A 42-year follow-up. Am J Med Genet A. 2007 Nov 1. 143(21):2502-11. [QxMD MEDLINE Link]. ... Thoracolumbosacral laminectomy in achondroplasia: long-term results in 22 patients. Am J Med Genet. 1987 Oct. 28(2):433-44. [ ...
An English-Portuguese-Spanish blog reviewing current and potential therapies for achondroplasia. ... FGFR3 and achondroplasia. While in normal conditions FGFR3 helps bones to grow in a balanced rhythm, in achondroplasia FGFR3 ... Treating Achondroplasia Um blog dedicado ao tratamento da acondroplasia. A blog dedicated to the treatment of achondroplasia. ... Treating achondroplasia. Strategies to treat achondroplasia target several different spots in the communication between the ...
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Achondroplasia. Content Area. Achondroplasia accounts for about 75% of all dwarfism; however, it is nonetheless a rare ... The gene for achondroplasia is a single mutation on a growth factor gene. Achondroplasia is transmitted as a dominant gene. ... In comparison, the low end of height at skeletal maturity for men without achondroplasia is 160 cm and for women is 151 cm. ... The short stature of patients with achondroplasia is not simply due to growth at a different rate than children without ...
A series of "Basic Elements of Teratology/Dysmorphology in Clinical Practice" webinars describe the principles, terminology, visual elements, and other basic components to prepare clinicians to better grasp clinically oriented webinars. The emphasis is on visual and terminology elements. In other words, the BASIC DESCRIPTIVE WEBINARS precede "TOPOGRAPHIC" WEBINARS and PRACTICUMS stressing combinations of informative visual clinical signs, signals, syndromes, etc. Webinars often are expanded by supplements and include links to further sources of information (see Table of Contents). ...
Achondroplasia Achondroplasia Schlüsselwörter Achondroplasia; ICD 10: Q77.4; Chondrodysplasia, chondrodystrophia fetalis; ... Achondroplasia is the most frequent of more than 100 described types of skeletal dysplasia which lead to dwarfism. The ... Keywords Achondroplasia; ICD 10: Q77.4; Chondrodysplasia, chondrodystrophia fetalis; skeletal dysplasia. Zusammenfassung Dieser ...
Height corresponds to −0.3 and +1.9 SDS of achondroplasia standard. From Merker 2020, Clinical charts in achondroplasia. ... achondroplasia, outer y-axis) and general population (inner y-axis). When scales are adjusted by 15% units, the achondroplasia ... Foot length in achondroplasia developed at about −4 SDS and adult foot was about 20% shorter than in the general population. It ... Table shows difference achondroplasia (Merker 2018) to normal population (Dangour 2002; Gerver 2011) Sitting height is only ...
hope for achondroplasia 🕊️. To cure vs. To treat.. • To cure is to complete the restoration (get rid of) of health.. • To treat ... Parents and caregivers are making the decision to TREAT their childs diagnosis with achondroplasia as they dont want their ... Whats coming up for achondroplasia isnt a cure nor is it genocide. Its hope. ...
... which is developing a protein drug to boost bone growth in the genetic condition achondroplasia. ... Home More News! Pfizer Pays up to €700M to Acquire Swiss Biotech Restoring Bone Growth in Achondroplasia ... In addition to achondroplasia, Therachon is developing treatments in phase II for short-bowel syndrome, a condition where the ... In achondroplasia, though, the protein is mutated. When activated by signalling molecules, the mutated protein instead puts the ...
  • DNA testing is now available before birth to confirm fetal ultrasound findings for parents who are at increased risk of having a child with achondroplasia. (hopkinsmedicine.org)
  • As a parent of a child with achondroplasia, I see the availability of treatments that impact bone growth as an important step forward," said Amer Haider, co-founder of Growing Stronger, an organization with a mission to improve the quality of medical care for little people through supporting research, in the company press release. (medscape.com)
  • Average-sized siblings have no increased risk of producing a child with achondroplasia. (medscape.com)
  • If both parents have achondroplasia there is a 50 percent chance to have a child with achondroplasia, a 25 percent chance that the child will not inherit the gene and be of average height, and a 25 percent chance that the child will inherit one abnormal gene from each parent, which can lead to severe skeletal problems that often result in early death. (childrenshospital.org)
  • Doctors may treat some children with growth hormone, but this does not significantly affect the height of the child with achondroplasia. (childrenshospital.org)
  • Not all of the below problems occur in every child with achondroplasia. (childrensnational.org)
  • If you or your partner has achondroplasia or you're the parent of a child with achondroplasia, talk to a genetic counselor about the condition. (hgfound.org)
  • Adults with achondroplasia often face issues with obesity and sleep apnea. (wikipedia.org)
  • Some research has found that adults with achondroplasia may also experience psychosocial complications, usually associated with short stature. (wikipedia.org)
  • Health problems are common in children and adults with achondroplasia. (childrensnational.org)
  • Both children and adults with achondroplasia have hip flexion contractures which have been found to be a contributing factor for sciatica and muscle fatigue reported by individuals with achondroplasia. (elpasochiropractorblog.com)
  • Neurosurgical Evaluation and Management of Adults with Achondroplasia. (bvsalud.org)
  • Achondroplasia includes the extremely rare short-limb skeletal dysplasia with severe combined immunodeficiency. (wikipedia.org)
  • Achondroplasia is the most common form of skeletal dysplasia, occurring in about one in every 40,000 births. (hopkinsmedicine.org)
  • Achondroplasia is a skeletal dysplasia and is characterized by the failure of normal conversion of cartilage into bone, resulting in disproportionate short stature. (hcplive.com)
  • Achondroplasia is a rare genetic disorder that causes a specific type of skeletal dysplasia characterized by short limbs. (delveinsight.com)
  • Achondroplasia is the most common skeletal dysplasia. (medscape.com)
  • Achondroplasia is the most frequent of more than 100 described types of skeletal dysplasia which lead to dwarfism. (ai-online.info)
  • Much of the current medical discussion for within centers for skeletal dysplasia and specifically patients with achondroplasia focuses on infancy and early childhood. (bvsalud.org)
  • Achondroplasia is a skeletal dysplasia which happens once in every 40,000 births. (legatus.org)
  • Somatotropin (recombinant human growth hormone [GH]) has been used to augment the height of patients with achondroplasia. (medscape.com)
  • Most of the orthopedic problems encountered in patients with achondroplasia are related to the spine. (medscape.com)
  • The primary defect found in patients with achondroplasia is abnormal endochondral ossification. (medscape.com)
  • We have treated more patients with achondroplasia than any other center in the world. (paleyinstitute.org)
  • A bone-lengthening apparatus is one option for increasing the height of patients with achondroplasia. (labiotech.eu)
  • This article provides a review of the common neurosurgical concerns for patients with achondroplasia . (bvsalud.org)
  • Achondroplasia is similar to another skeletal disorder called hypochondroplasia , but the features of achondroplasia tend to be more severe. (medlineplus.gov)
  • The characteristic features of achondroplasia are apparent at birth. (medscape.com)
  • All people with achondroplasia have short stature. (medlineplus.gov)
  • With this action, children with short stature due to achondroplasia have a treatment option that targets the underlying cause of their short stature," said Theresa Kehoe, MD, director of the Division of General Endocrinology in the FDA's Center for Drug Evaluation and Research, in a statement. (medscape.com)
  • Achondroplasia is the most common form of disproportionate short stature in humans. (hcplive.com)
  • In addition to the obvious limb deformities of short stature and bowing, children with achondroplasia typically have frontal bossing (prominent forehead), midface hypoplasia (upper jaw, cheekbones, and eye sockets have not grown as much as the rest of the face), hyperlordosis of the spine, delayed developmental milestones, and spinal stenosis (narrowing of the open spaces within the spine). (paleyinstitute.org)
  • Achondroplasia is a form of short-limbed dwarfism or short stature that has abnormal maturation of growth plate chondroblasts. (boneandspine.com)
  • Achondroplasia is characterized by abnormal bone growth that results in short stature with disproportionately short arms and legs, a large head, and characteristic facial features with frontal bossing and mid-face hypoplasia (Francomano. (preventiongenetics.com)
  • An 82-year-old Japanese female [height 100 cm, weight 27 kg, body surface area (BSA) 0.82 cm 2 ] who was diagnosed with achondroplasia at birth based on the short stature and lateral curvature of the spine was admitted to our hospital because of acute-onset severe chest pain migration to her back accompanied by numbness and pain in the right lower limb. (springeropen.com)
  • Achondroplasia is a genetic disorder with an autosomal dominant pattern of inheritance whose primary feature is dwarfism. (wikipedia.org)
  • Achondroplasia is the most common cause of dwarfism and affects about 1 in 27,500 people. (wikipedia.org)
  • Achondroplasia is the most common form of short-limbed dwarfism. (medlineplus.gov)
  • Achondroplasia is the most common type of short-limbed dwarfism. (medlineplus.gov)
  • The US Food and Drug Administration (FDA) has approved vosoritide (Voxzogo) daily injection for the treatment of children with achondroplasia, the most common form of human dwarfism. (medscape.com)
  • Achondroplasia is a common cause of dwarfism (also called little people), a condition in which a person is very short (less than 4 feet 10 inches as an adult). (hgfound.org)
  • Achondroplasia is a genetic disorder that leads to dwarfism. (elpasochiropractorblog.com)
  • Hypochondroplasia is genetically similar to achondroplasia but is phenotypically a much milder form of dwarfism. (paleyinstitute.org)
  • Achondroplasia is the commonest type of dwarfism and is associated with short limbs, a large head and often with trident hands. (boneandspine.com)
  • Achondroplasia is a common disorder of dwarfism with disproportionate stature. (pharmaproff.com)
  • Catalent Pharma Solutions has signed an agreement with Therachon AG, a Swiss biotechnology company focused on rare genetic diseases, to support preclinical and clinical development of TA-46, a novel protein addressing achondroplasia, which is the most common form of short-limbed dwarfism. (pharmaceuticalprocessingworld.com)
  • Increase of height of a child diagnosed with achondroplasia (dwarfism) according to the technology of Dr. Veklich, using the external fixation device designed by Veklich V.V. (ladisten.com)
  • Achondroplasia is an inherited disorder and the most common type of short-limbed dwarfism in human beings, affecting more than 250,000 individuals worldwide. (springeropen.com)
  • This report presents the first case of a patient at such an advanced age with dwarfism and cardiac surgery and the second case to illustrate successful acute aortic dissection repair in achondroplasia. (springeropen.com)
  • Lethal short-limbed dwarfism (thanatophoric dysplasia, caused by mutations in the same gene as achondroplasia) causes severe chest wall deformities and respiratory failure in neonates, resulting in death. (msdmanuals.com)
  • The word achondroplasia means "without cartilage formation. (medlineplus.gov)
  • [ 2 ] Although the word achondroplasia is inaccurate from a histopathologic perspective, its use is universal and accepted by the International Working Group on Constitutional Diseases of the Bone. (medscape.com)
  • C-type natriuretic peptide analogue therapy in children with achondroplasia. (msdmanuals.com)
  • Achondroplasia, hypochondroplasia, and metaphyseal chondrodysplasias are considered short-limb dwarfing conditions. (medscape.com)
  • In hypochondroplasia, adult relative sitting height might be 57% compared to 67% in achondroplasia and 52% in the general population. (achondroplasia-growthcharts.com)
  • the figure below shows two examples of FGFR3 mutations: a girl with achondroplasia (in blue) and one with hypochondroplasia (in green). (achondroplasia-growthcharts.com)
  • Fig. Development of sitting height and relative sitting height respectively in a girl with achondroplasia (Gly380Arg) blue and a girl with hypochondroplasia (Asn540Lys) green. (achondroplasia-growthcharts.com)
  • The Achondroplasia market report provides current treatment practices, emerging drugs, Achondroplasia market share of the individual therapies, current and forecasted Achondroplasia market Size from 2019 to 2032 segmented by seven major markets. (delveinsight.com)
  • The research study on Global Achondroplasia Treatment market 2019 presents an extensive analysis of current Achondroplasia Treatment market size, drivers, trends, opportunities, challenges, as well as key Achondroplasia Treatment market segments. (americanewshour.com)
  • Achondroplasia is caused by a mutation in the fibroblast growth factor receptor 3 (FGFR3) gene that results in its protein being overactive. (wikipedia.org)
  • However, in about 80 percent of cases, achondroplasia results from a spontaneous mutation (a sudden genetic defect) that occurs in the developing embryo. (hopkinsmedicine.org)
  • Achondroplasia is caused by a mutation in the fibroblast growth factor receptor 3 (FGFR3) gene that leads to inhibited mineralization of chondrocytes (cartilage cells) in the growth plate. (medscape.com)
  • In some cases, the child inherits the achondroplasia from a parent with the disorder, but most cases - about 80 percent - are caused by a new mutation in the family. (childrenshospital.org)
  • Most cases of achondroplasia are from a new gene mutation in families. (childrensnational.org)
  • A gene change (also called a mutation) causes achondroplasia. (hgfound.org)
  • In high risk pregnancies, or in those where achondroplasia is suspected after an ultrasound, fetal DNA can be tested for the FGFR3 mutation to confirm diagnosis. (ernbond.eu)
  • There is no known cure for achondroplasia even though the cause of the mutation has been found. (elpasochiropractorblog.com)
  • RASopathies are a family of genetic disorders caused by mutations in enzymes that modulate the activity of the MAPK pathway , a group of enzymes which is also one of the most important chemical pathways impacted by the fibroblast growth factor receptor 3 (FGFR3) mutation in achondroplasia (reviewed here ). (treatingachondroplasia.com)
  • The gene for achondroplasia is a single mutation on a growth factor gene. (paleyinstitute.org)
  • The DelveInsight's Achondroplasia market report gives a thorough understanding of the Achondroplasia by including details such as disease definition, symptoms, causes, pathophysiology, diagnosis, and treatment. (delveinsight.com)
  • The effect is genetically dominant, with one variant of the FGFR3 gene being sufficient to cause achondroplasia, while two copies of the mutant gene are invariably fatal (recessive lethal) before or shortly after birth. (wikipedia.org)
  • Variants (also called mutations) in the FGFR3 gene cause achondroplasia. (medlineplus.gov)
  • Two specific variants in the FGFR3 gene are responsible for almost all cases of achondroplasia. (medlineplus.gov)
  • Achondroplasia is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. (medlineplus.gov)
  • In the remaining cases, people with achondroplasia inherit an altered FGFR3 gene from one or two affected parents . (medlineplus.gov)
  • Individuals who inherit two altered copies of the FGFR3 gene typically have a severe form of achondroplasia that causes extreme shortening of the bones and an underdeveloped rib cage. (medlineplus.gov)
  • A single gene mapped to the short arm of chromosome 4 (band 4p16.3) is responsible for achondroplasia and is transmitted as an autosomal dominant trait. (medscape.com)
  • However, people with achondroplasia have a 50 percent chance to pass the gene to a child, resulting in the condition. (childrenshospital.org)
  • The gene that causes achondroplasia is included in this category. (childrenshospital.org)
  • The goal is to understand how the faulty gene causes the features seen in achondroplasia in order to lead to improved treatment. (childrenshospital.org)
  • Achondroplasia is due to mutations in the fibroblast growth factor receptor 3 ( FGFR3 ) gene, encoding a transmembrane receptor that is important in regulating linear bone growth, among other functions. (ernbond.eu)
  • Achondroplasia is transmitted as a dominant gene. (paleyinstitute.org)
  • 80% of achondroplasia occurs as a result of new mutations in the FGFR3 gene. (boneandspine.com)
  • More than 99% of individuals with achondroplasia have one of two variants in exon 10 of the FGFR3 gene. (preventiongenetics.com)
  • If one parent has achondroplasia there is a 50% chance of passing it on to offspring. (ernbond.eu)
  • Treatment with growth hormone does not largely affect the height of a person with achondroplasia. (childrensnational.org)
  • The diagnosis of achondroplasia in the fetus is made with certainty when one or both parents have this condition. (medscape.com)
  • Eligible patients had a clinical diagnosis of achondroplasia, were ambulatory, had participated for 6 months in a baseline growth study and were aged 5 to less than 18 years at enrolment. (johnshopkins.edu)
  • When both parents have achondroplasia, 50% of their offspring are heterozygous and affected, 25% are homozygous, which is ordinarily fatal in the first few months of life, and 25% are unaffected. (medscape.com)
  • Individuals with achondroplasia commonly experience back pain, which may often progress to sciatica symptoms, such as pain and discomfort, tingling and burning sensations in the lower extremities, and numbness, among other consequences. (elpasochiropractorblog.com)
  • Individuals with achondroplasia also typically demonstrate a mixed pattern of joint mobility, including joint contracture and joint hypermobility at characteristic joints. (elpasochiropractorblog.com)
  • Over 80% of individuals with achondroplasia have parents with normal stature and have achondroplasia as the result of a de novo variant. (preventiongenetics.com)
  • Achondroplasia results in impaired endochondral bone growth (bone growth within cartilage). (wikipedia.org)
  • However, in people with achondroplasia the problem is not forming cartilage but converting it to bone (a process called ossification), particularly in the long bones of the arms and legs. (medlineplus.gov)
  • In achondroplasia, this protein begins to function abnormally, slowing down the growth of bone in the cartilage of the growth plate. (hopkinsmedicine.org)
  • The term achondroplasia, implying absent cartilage formation, was first used by Parrot in 1878. (medscape.com)
  • But if a baby has achondroplasia, cartilage in places like the arms and legs doesn't turn into bone the way it should. (hgfound.org)
  • However, the actual problem in achondroplasia is not formation of the cartilage but ossification. (boneandspine.com)
  • Achondroplasia impairs the growth of bone in the limbs and causes abnormal growth in the spine and skull. (hopkinsmedicine.org)
  • Achondroplasia is a lifelong genetic condition resulting from the disordered skeletal architecture caused by impaired endochondral bone growth throughout childhood," added Polgreen, of the Lundquist Institute at Harbor and associate professor at the David Geffen School of Medicine, University of California, Los Angelas. (medscape.com)
  • Achondroplasia is a genetic bone disorder, affecting one in 20,000 babies. (childrenshospital.org)
  • Achondroplasia is a type of rare genetic bone disorder. (childrensnational.org)
  • Achondroplasia is a birth defect that affects a baby's bone growth. (hgfound.org)
  • Most babies born with achondroplasia live a normal life span, but a few may have severe bone problems that can lead to death. (hgfound.org)
  • Pharma giant Pfizer is acquiring the Swiss biotech Therachon, which is developing a protein drug to boost bone growth in the genetic condition achondroplasia. (labiotech.eu)
  • Pfizer will pay €303M ($340M) upfront, and up to €420M ($470M) dependent on Therachon reaching milestones in the development of its drug improving bone growth in achondroplasia. (labiotech.eu)
  • At the root of achondroplasia is a cell surface protein that transiently inhibits bone growth when activated by signalling molecules. (labiotech.eu)
  • Pfizer is looking to compete with other companies hoping to restore bone growth in achondroplasia. (labiotech.eu)
  • Statins have been under the spotlight since 2014, when a Japanese group published an elegant study exploring the use of statins for achondroplasia: they found out that statins were able to rescue bone growth in a model of achondroplasia (you can read more here ) (3). (treatingachondroplasia.com)
  • A very recent study published by another Japanese group seems to have finally unveiled the mechanism of action of these drugs, explaining how statins could induce bone growth in achondroplasia. (treatingachondroplasia.com)
  • An uncommon but serious complication of achondroplasia in early childhood is stenosis of the hole at the base of the skull where the spinal cord comes out of brain (foramen magnum). (medlineplus.gov)
  • Treatment of kyphosis and lumbar stenosis in achondroplasia. (medscape.com)
  • Efforts to treat or prevent complications like obesity, hydrocephalus, obstructive sleep apnea, middle ear infections, or spinal stenosis may be required for the management of achondroplasia. (elpasochiropractorblog.com)
  • There is an injectable medication available to treat achondroplasia to increase height while the growth plates remain open. (childrenshospital.org)
  • But those that I share this diagnosis with, have made me (and I know many others) feel more criticized, less than, and small (no pun intended, I swear) for how I (we) choose to treat achondroplasia. (chandlercrews.com)
  • The first drug approved specifically for treating Achondroplasia is called VOXZOGO (Vosoritide), developed by BioMarin Pharmaceuticals. (delveinsight.com)
  • The life expectancy of people with achondroplasia is approximately 10 years less than average. (wikipedia.org)
  • Cite this: FDA Approves Vosoritide for Children With Achondroplasia - Medscape - Nov 22, 2021. (medscape.com)
  • In a recent published report, Kenneth Research has updated the Global Achondroplasia Treatment Market report for for 2021 till 2030. (americanewshour.com)
  • Lynda Polgreen, MD, an investigator in clinical trials for vosoritide, agrees: "This approval is an important milestone representing the first time that physicians will be able to offer a therapy targeted at the root cause of the condition for families of children with achondroplasia aged five and older," she noted in a BioMarin press release . (medscape.com)
  • The first participant was dosed in BioMarin Pharmaceutical Inc.'s global phase 2 study for vosoritide for the treatment of infants and young children with achondroplasia. (hcplive.com)
  • Since children under the age of 18 with achondroplasia have bones still amenable to growth, vosoritide is being assessed in them. (hcplive.com)
  • Vosoritide represents an innovative therapy to treat the underlying cause of achondroplasia. (hcplive.com)
  • Seventy infants and young children with achondroplasia aged 0 to less than 60 months are being assessed in the randomized, placebo-controlled phase 2 study of vosoritide for the duration of 52 weeks. (hcplive.com)
  • A peptide-based drug candidate namely, vosoritide, is in the Phase III stage of development by BioMarin Pharmaceutical Inc., for the treatment of achondroplasia. (pharmaproff.com)
  • An open-label study suggested that vosoritide administration might increase growth velocity in children with achondroplasia. (johnshopkins.edu)
  • Interpretation: Vosoritide is an effective treatment to increase growth in children with achondroplasia. (johnshopkins.edu)
  • Achondroplasia is a genetic condition affecting a protein in the body called the fibroblast growth factor receptor. (hopkinsmedicine.org)
  • Because an enlarged head is normal in children with achondroplasia, pediatricians can use a special head circumference growth chart to distinguish between normal growth and possible hydrocephalus. (hopkinsmedicine.org)
  • The indication is for children aged 5 years and older who have achondroplasia and open epiphyses (growth plates), meaning that they still have the potential to grow. (medscape.com)
  • The purpose of this study is to observe and study the growth velocity, body proportionality, and complications (comorbidities) in children with achondroplasia. (archildrens.org)
  • According to DelveInsight's' estimates, Achondroplasia market in 7MM is expected to show a positive growth, during the forecast period (2023-2032), mainly attributed to new product launches, a decent pipeline of emerging therapies, as well as the ongoing clinical development. (delveinsight.com)
  • The current treatment options for Achondroplasia include medications like growth hormone therapy, surgical interventions, and supportive therapy. (delveinsight.com)
  • The most common form of disproportionate growth retardation, achondroplasia is recognizable at birth and after the 24th week of gestation using ultrasound. (hgfound.org)
  • Having recently completed phase I, the drug could become the first approved treatment for improving growth in achondroplasia. (labiotech.eu)
  • The Achondroplasia Treatment study lists the essential elements which influence the growth of Achondroplasia Treatment industry. (americanewshour.com)
  • In addition, the Achondroplasia Treatment industry growth in distinct regions and Achondroplasia Treatment R&D status are enclosed within the report. (americanewshour.com)
  • Achondroplasia Treatment Industry compound annual growth rate (CAGR) will be XX% from 2023 till 2030. (cognitivemarketresearch.com)
  • Market Restraints of Achondroplasia Treatment: Restraints are the negative factors which hinder the market growth and development in the near future. (cognitivemarketresearch.com)
  • Market Opportunities of Achondroplasia Treatment: Market opportunities are expected to open up growth window for the new entrants in the market. (cognitivemarketresearch.com)
  • In this section, we reveal an in-depth analysis of the key factors influencing Achondroplasia Treatment Industry growth. (cognitivemarketresearch.com)
  • In achondroplasia, treatment with human growth hormone is generally not effective. (msdmanuals.com)
  • Achondroplasia can be diagnosed before birth by fetal ultrasound or after birth by complete medical history and physical examination. (hopkinsmedicine.org)
  • Achondroplasia can be diagnosed before birth by fetal ultrasound. (childrensnational.org)
  • Achondroplasia can be detected before birth through the use of prenatal ultrasound. (elpasochiropractorblog.com)
  • Candidates for this test include patients with clinical and radiographic features consistent with achondroplasia, those with abnormal prenatal ultrasound results showing short fetal limbs and raising the possibility of achondroplasia, and individuals who may be too young to diagnose with certainty or individuals with atypical findings. (preventiongenetics.com)
  • Without treatment, the average height of an adult male with achondroplasia is 131 centimeters (4 feet, 4 inches), and the average height for adult females is 124 centimeters (4 feet, 1 inch). (medlineplus.gov)
  • adult height in people with achondroplasia is between 42 and 56 inches. (hopkinsmedicine.org)
  • The average height of adult males with achondroplasia is 52 inches (or 4 feet, 4 inches), and the average height of adult females with achondroplasia is 49 inches (or 4 feet, 1 inch). (childrenshospital.org)
  • Legs of an adult with achondroplasia is roughly 40 cm shorter than in the general population (males having 4 cm longer legs than females compared to 8 cm in general population). (achondroplasia-growthcharts.com)
  • Currently, there is no way to prevent achondroplasia, since most cases result from unexpected new mutations. (childrenshospital.org)
  • Share your contact details to receive free updated sample copy/pages of the recently published edition of Achondroplasia Treatment Market Report 2023. (cognitivemarketresearch.com)
  • Global Achondroplasia Treatment market size 2023 was XX Million. (cognitivemarketresearch.com)
  • Cognitive Market Research has recently published the 7th edition of Achondroplasia Treatment Market Report 2023. (cognitivemarketresearch.com)
  • Global Achondroplasia Treatment Market Report 2023 talks about crucial market insights with the help of segments and sub-segments analysis. (cognitivemarketresearch.com)
  • Hydrocephalus is a severe effect associated with achondroplasia in children. (wikipedia.org)
  • Brainstem compression can ultimately lead to death if it is left untreated, so parents and physicians of children with achondroplasia should watch for these symptoms. (hopkinsmedicine.org)
  • Sometimes the vertebrae of children with achondroplasia do not grow enough to allow sufficient space for nerves exiting and entering the spinal cord to pass in and out of the bony spinal column. (hopkinsmedicine.org)
  • Fathers who are older than 45 years have a higher chance of having children with certain genetic disorders , including achondroplasia. (childrenshospital.org)
  • Which children are at risk for achondroplasia? (childrensnational.org)
  • How is achondroplasia in children treated? (childrensnational.org)
  • We are pleased to have initiated this study in the youngest people with achondroplasia," added Dr Fuchs, "we and are grateful to the children and their families who have been participating in our ongoing studies and those who are now participating in this phase 2 study. (hcplive.com)
  • Following the mediation of the Public Defender's Office, a working group will be created in the Ministry of Health, where a representative of parents of children with achondroplasia syndrome will be involved in the process of developing national guidelines, protocols and recommendations for the effective management and treatment of achondroplasia syndrome together with the relevant experts. (ombudsman.ge)
  • Parents of children with achondroplasia syndrome contacted the Public Defender and asked for help in ensuring treatment for their children. (ombudsman.ge)
  • Weight for age charts for children with achondroplasia. (medscape.com)
  • Age-appropriate body mass index in children with achondroplasia: interpretation in relation to indexes of height. (medscape.com)
  • Functional performance in young Australian children with achondroplasia. (medscape.com)
  • Medical management of children with achondroplasia: Evaluation of an Australasian cohort aged 0-5 years. (medscape.com)
  • Errors in the prenatal diagnosis of children with achondroplasia. (medscape.com)
  • Thinking about therapeutic solutions for achondroplasia statins could turn to be a handy solution: they are inexpensive, have a known safety profile and have been largely used for several clinical indications, including in children and pregnant women. (treatingachondroplasia.com)
  • Background: There are no effective therapies for achondroplasia. (johnshopkins.edu)
  • Health problems commonly associated with achondroplasia include obesity and recurrent ear infections. (medlineplus.gov)
  • Achondroplasia associated with Down syndrome. (medscape.com)
  • In addition to achondroplasia, Therachon is developing treatments in phase II for short-bowel syndrome, a condition where the intestines are unable to absorb nutrients from food. (labiotech.eu)
  • The most common causes of a large anterior fontanel or delayed fontanel closure are achondroplasia, hypothyroidism, Down syndrome, increased intracranial pressure, and rickets. (aafp.org)
  • Some of the key players involved in the development of achondroplasia therapeutics include BioMarin Pharmaceutical Inc., Ascendis Pharma A/S, and Therachon AG. (pharmaproff.com)
  • In achondroplasia, though, the protein is mutated. (labiotech.eu)
  • Catalent Biologics announces collaboration with Therachon, Switzerland, to advance clinical development of innovative protein therapy for achondroplasia. (pharmaceuticalprocessingworld.com)
  • Achondroplasia is inherited in an autosomal dominant pattern. (boneandspine.com)
  • What are the treatment options for achondroplasia? (childrenshospital.org)
  • Infigratinib, RBM-007, SAR-442501, and others are some of the drugs in the Achondroplasia treatment market. (delveinsight.com)
  • The Report also covers current Achondroplasia treatment practice/algorithm, market drivers, market barriers and unmet medical needs to curate the best of the opportunities and assesses the underlying potential of the Achondroplasia market. (delveinsight.com)
  • Achondroplasia: pathogenesis and implications for future treatment. (medscape.com)
  • A blog dedicated to the treatment of achondroplasia. (treatingachondroplasia.com)
  • The results of that study bring more evidence for the potential role of statins for the treatment of achondroplasia. (treatingachondroplasia.com)
  • Well, after reviewing the complete text, I see that it is broader than what I have initially planned and became a new review of the therapeutic landscape, with a focus on the use of statins for the treatment of achondroplasia. (treatingachondroplasia.com)
  • However, before talking about this study let's pick a few basic concepts about achondroplasia and the therapeutic landscape to help us understanding the potential role of statins in the treatment of achondroplasia. (treatingachondroplasia.com)
  • According to the research findings, majority of the drug candidates for the treatment of achondroplasia are being developed to be administered by the subcutaneous route. (pharmaproff.com)
  • The drug candidates developed by several companies for the treatment of achondroplasia have shown positive clinical results in the various phases of drug development. (pharmaproff.com)
  • For instance, RIBOMIC Inc.'s, RiboART system, is the essential element in drug discovery technology, that helps in the discovery of various new drugs for the treatment of the various diseases including achondroplasia. (pharmaproff.com)
  • This definitely shows how the market is trying to recover back and this will have a direct impact on the Healthcare/ICT/Chemical industries, creating a huge demand for Global Achondroplasia Treatment Market products. (americanewshour.com)
  • Further, it explains various definitions and classification of the Achondroplasia Treatment industry, applications, and chain structure. (americanewshour.com)
  • In continuation of this data, the Achondroplasia Treatment report covers various marketing strategies followed by key players and distributors. (americanewshour.com)
  • Also explains Achondroplasia Treatment marketing channels, potential buyers and development history. (americanewshour.com)
  • The intent of global Achondroplasia Treatment research report is to depict the information to the user regarding Achondroplasia Treatment market forecast and dynamics for the upcoming years. (americanewshour.com)
  • Long-term evaluation of the worldwide Achondroplasia Treatment market share from diverse countries and regions is roofed within the Achondroplasia Treatment report. (americanewshour.com)
  • Additionally, includes Achondroplasia Treatment type wise and application wise consumption figures. (americanewshour.com)
  • After the basic information, the global Achondroplasia Treatment Market study sheds light on the Achondroplasia Treatment technological evolution, tie-ups, acquisition, innovative Achondroplasia Treatment business approach, new launches and Achondroplasia Treatment revenue. (americanewshour.com)
  • The Achondroplasia Treatment study also incorporates new investment feasibility analysis of Achondroplasia Treatment. (americanewshour.com)
  • Together with strategically analyzing the key micro markets, the report also focuses on industry-specific drivers, restraints, opportunities, and challenges in the Achondroplasia Treatment market. (americanewshour.com)
  • The study also classifies the entire Achondroplasia Treatment market on basis of leading manufacturers, different types, various applications and diverse geographical regions. (americanewshour.com)
  • Overall Achondroplasia Treatment market is characterized by the existence of well-known global and regional Achondroplasia Treatment vendors. (americanewshour.com)
  • These established Achondroplasia Treatment players have huge essential resources and funds for Achondroplasia Treatment research as well as developmental activities. (americanewshour.com)
  • Achondroplasia Treatment Market is Segmented as below. (cognitivemarketresearch.com)
  • Market Drivers of Achondroplasia Treatment: The key factors which influence the overall sales demand for Achondroplasia Treatment Industry in a positive way. (cognitivemarketresearch.com)
  • Market Trends of Achondroplasia Treatment: (This information will be part of the paid report version. (cognitivemarketresearch.com)
  • We have various report editions of Achondroplasia Treatment Market, hence please contact our sales team and author directly to obtain/purchase a desired Edition eg, Global Edition, Regional Edition, Country Specific Report Edition, Company Profiles, Forecast Edition, etc. (cognitivemarketresearch.com)
  • Achondroplasia Treatment market has been segmented with the help of its Type, Application , and others. (cognitivemarketresearch.com)
  • Achondroplasia Treatment market analysis helps to understand key industry segments, and their global, regional, and country-level insights. (cognitivemarketresearch.com)
  • Achondroplasia occurs with equal frequency in males and females. (medscape.com)
  • DelveInsight's "Achondroplasia Market Insights, Epidemiology, and Market Forecast-2032" report delivers an in-depth understanding of the Achondroplasia, historical and forecasted epidemiology as well as the Achondroplasia market trends in the United States, EU5 (Germany, Spain, Italy, France, and United Kingdom) and Japan. (delveinsight.com)
  • Thus, the patterns of defect help to explain many of the observed clinical and radiographic characteristics of achondroplasia. (medscape.com)
  • Achondroplasia therapeutics pipeline has majority of candidates in the Pre-Clinical stage of development. (pharmaproff.com)
  • If a person inherits both defected copies, the achondroplasia in those persons is very severe causing extreme shortening of the bones and an underdeveloped rib cage. (boneandspine.com)
  • Some infants may also experience symptoms such as excessive fluid buildup in the brain (hydrocephalus) and low muscle tone (hypotonia), which are common in Achondroplasia. (delveinsight.com)
  • Achondroplasia is the most common form of chondrodysplasia, characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia. (ernbond.eu)
  • Relative sitting height in achondroplasia (line) and the general population (dashed) with, above, one common y-axis and, below, with two y-axes separated for disproportional (achondroplasia, outer y-axis) and general population (inner y-axis). (achondroplasia-growthcharts.com)
  • How Common is Achondroplasia? (boneandspine.com)
  • People with achondroplasia are generally of normal intelligence. (medlineplus.gov)
  • People with achondroplasia have normal intelligence and normal lifespan. (childrensnational.org)
  • Short-statured people, dwarfs and people with achondroplasia play a significant role in Maya mythology because it is believed that dwarfs lived together with the gods before humans even existed. (the-incredible-shrinking-man.net)
  • People with achondroplasia can have a range of health problems, so it's important to take your baby to see his health care provider for routine well-baby checkups. (hgfound.org)
  • Intelligence is typically considered normal in people with achondroplasia. (elpasochiropractorblog.com)
  • Eighty percent of all "little people" have achondroplasia. (medscape.com)
  • How do People Inherit Achondroplasia? (boneandspine.com)
  • A few days after the diagnosis, I asked my OB-GYN whether people with achondroplasia suffer more from alcoholism. (legatus.org)