Congenital anomaly of abnormally short fingers or toes.
Alterations or deviations from normal shape or size which result in a disfigurement of the hand occurring at or before birth.
Alterations or deviations from normal shape or size which result in a disfigurement of the foot occurring at or before birth.
Congenital structural deformities of the upper and lower extremities collectively or unspecified.
A family of cell surface receptors that were originally identified by their structural homology to neurotropic TYROSINE KINASES and referred to as orphan receptors because the associated ligand and signaling pathways were unknown. Evidence for the functionality of these proteins has been established by experiments showing that disruption of the orphan receptor genes results in developmental defects.
Bones that make up the SKELETON of the TOES, consisting of two for the great toe, and three for each of the other toes.
A growth differentiation factor that plays a role in early CHONDROGENESIS and joint formation.
FIBROUS DYSPLASIA OF BONE affecting several bones. When melanotic pigmentation (CAFE-AU-LAIT SPOTS) and multiple endocrine hyperfunction are additionally associated it is referred to as Albright syndrome.
A union between adjacent bones or parts of a single bone formed by osseous material, such as ossified connecting cartilage or fibrous tissue. (Dorland, 27th ed)
Congenital structural deformities, malformations, or other abnormalities of the maxilla and face or facial bones.
A characteristic symptom complex.
The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.
The TARSAL BONES; METATARSAL BONES; and PHALANGES OF TOES. The tarsal bones consists of seven bones: CALCANEUS; TALUS; cuboid; navicular; internal; middle; and external cuneiform bones. The five metatarsal bones are numbered one through five, running medial to lateral. There are 14 phalanges in each foot, the great toe has two while the other toes have three each.
A hereditary syndrome clinically similar to HYPOPARATHYROIDISM. It is characterized by HYPOCALCEMIA; HYPERPHOSPHATEMIA; and associated skeletal development impairment and caused by failure of response to PARATHYROID HORMONE rather than deficiencies. A severe form with resistance to multiple hormones is referred to as Type 1a and is associated with maternal mutant allele of the ALPHA CHAIN OF STIMULATORY G PROTEIN.
The distal extremity of the leg in vertebrates, consisting of the tarsus (ANKLE); METATARSUS; phalanges; and the soft tissues surrounding these bones.
A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification.
A subtype of bone morphogenetic protein receptors with high affinity for BONE MORPHOGENETIC PROTEINS. They can interact with and undergo PHOSPHORYLATION by BONE MORPHOGENETIC PROTEIN RECEPTORS, TYPE II. They signal primarily through RECEPTOR-REGULATED SMAD PROTEINS.
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
Genes that influence the PHENOTYPE both in the homozygous and the heterozygous state.
Subnormal intellectual functioning which originates during the developmental period. This has multiple potential etiologies, including genetic defects and perinatal insults. Intelligence quotient (IQ) scores are commonly used to determine whether an individual has an intellectual disability. IQ scores between 70 and 79 are in the borderline range. Scores below 67 are in the disabled range. (from Joynt, Clinical Neurology, 1992, Ch55, p28)
The distal part of the arm beyond the wrist in humans and primates, that includes the palm, fingers, and thumb.
The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.
Bone-growth regulatory factors that are members of the transforming growth factor-beta superfamily of proteins. They are synthesized as large precursor molecules which are cleaved by proteolytic enzymes. The active form can consist of a dimer of two identical proteins or a heterodimer of two related bone morphogenetic proteins.

Temtamy preaxial brachydactyly syndrome is caused by loss-of-function mutations in chondroitin synthase 1, a potential target of BMP signaling. (1/20)

 (+info)

Indian hedgehog mutations causing brachydactyly type A1 impair Hedgehog signal transduction at multiple levels. (2/20)

 (+info)

Brachydactylia associated with mitochondrial disorder in an octogenarian. (3/20)

In a 80yo female with acute pancreatitis, myopathy, polyneuropathy, short stature, diabetes mellitus, hypothyroidism, hypoacusis, atrial fibrillation, hepatopathy, and renal cysts, mitochondrial disease was diagnosed. The family history for the disease was negative. Interestingly, the patient additionally presented with brachydactylia, which was also found in her son and father and has not been reported in association with mitochondrial disease before. Whether the relation between brachydactylia and mitochondrial disease was causal or coincidental remains speculative.  (+info)

Evaluation of qualitative methods for phenotyping brachymesophalangia-V from radiographs of children. (4/20)

 (+info)

Isolated brachydactyly type E caused by a HOXD13 nonsense mutation: a case report. (5/20)

 (+info)

Chondroitin sulfate synthase 1 (Chsy1) is required for bone development and digit patterning. (6/20)

 (+info)

Pseudohypoparathyroidism presenting with ventricular arrhythmia: a case report. (7/20)

 (+info)

Functional analysis of alleged NOGGIN mutation G92E disproves its pathogenic relevance. (8/20)

 (+info)

There are two types of brachydactyly:

1. Postaxial brachydactyly: This type affects the little finger side of the hand, causing the corresponding finger to be shorter than the others.
2. Preaxial brachydactyly: This type affects the thumb side of the hand, causing the corresponding finger to be shorter than the others.

Brachydactyly can be caused by a variety of genetic mutations or chromosomal abnormalities, such as Turner syndrome, Noonan syndrome, and Down syndrome. It can also be caused by environmental factors, such as maternal diabetes during pregnancy.

The symptoms of brachydactyly may include:

* Shortened fingers or toes
* Limited range of motion in the affected digits
* Difficulty grasping or manipulating objects
* Aesthetic concerns

Treatment for brachydactyly depends on the underlying cause and severity of the condition. In some cases, surgery may be necessary to lengthen the affected fingers or toes. Physical therapy and occupational therapy can also help improve range of motion and function.

It's important to note that brachydactyly is usually a congenital condition, meaning it is present at birth. However, in some cases, it may not be diagnosed until later in childhood or adulthood. If you suspect your child or yourself may have brachydactyly, it's important to consult with a healthcare professional for proper evaluation and treatment.

Congenital hand deformities are present at birth and can be caused by genetic mutations or environmental factors during fetal development. They can affect any part of the hand, including the fingers, thumb, or wrist. Some common congenital hand deformities include:

1. Clubhand: A deformity characterized by a shortened hand with the fingers and thumb all bent towards the palm.
2. Clinodactyly: A deformity characterized by a curved or bent finger.
3. Postaxial polydactyly: A deformity characterized by an extra digit on the little finger side of the hand.
4. Preaxial polydactyly: A deformity characterized by an extra digit on the thumb side of the hand.
5. Symbrachydactyly: A deformity characterized by a shortened or missing hand with no or only a few fingers.

The symptoms of congenital hand deformities can vary depending on the type and severity of the deformity. Some common symptoms include:

1. Limited range of motion in the affected hand.
2. Difficulty grasping or holding objects.
3. Pain or stiffness in the affected hand.
4. Abnormal finger or thumb position.
5. Aesthetic concerns.

The diagnosis of congenital hand deformities is usually made through a combination of physical examination, medical history, and imaging studies such as X-rays or ultrasound. Treatment options for congenital hand deformities can vary depending on the type and severity of the deformity and may include:

1. Surgery to correct the deformity.
2. Physical therapy to improve range of motion and strength.
3. Bracing or splinting to support the affected hand.
4. Orthotics or assistive devices to help with daily activities.
5. Medications to manage pain or inflammation.

It is important to seek medical attention if you suspect that your child may have a congenital hand deformity, as early diagnosis and treatment can improve outcomes and reduce the risk of complications.

There are many different types of congenital foot deformities, including:

1. Clubfoot (also known as talipes equinovarus): This is a condition in which the foot is twisted inward and downward, so that the heel is next to the ankle bone and the toes are pointing upwards.
2. Cavus foot (also known as high arch foot): This is a condition in which the arch of the foot is raised and rigid, making it difficult to walk or stand.
3. Flatfoot (also known as fallen arch foot): This is a condition in which the arch of the foot is low or nonexistent, causing the foot to appear flat.
4. Metatarsus adductus: This is a condition in which the forefoot is turned inward so that the toes are pointing towards the other foot.
5. Cleft foot: This is a rare condition in which the foot is misshapen and has a cleft or divide in the soft tissue.
6. Polydactyly (extra digits): This is a condition in which there are extra toes or fingers present.
7. Posterior tibial dysfunction: This is a condition in which the tendon that supports the arch of the foot is weakened or injured, leading to a flatfoot deformity.
8. Hereditary conditions: Some congenital foot deformities can be inherited from parents or grandparents.
9. Genetic syndromes: Certain genetic syndromes, such as Down syndrome, can increase the risk of developing congenital foot deformities.
10. Environmental factors: Exposure to certain medications or chemicals during pregnancy can increase the risk of congenital foot deformities.

Congenital foot deformities can be diagnosed through a physical examination, X-rays, and other imaging tests. Treatment options depend on the specific type and severity of the deformity, but may include:

1. Observation and monitoring: Mild cases of congenital foot deformities may not require immediate treatment and can be monitored with regular check-ups to see if any changes occur.
2. Orthotics and shoe inserts: Customized shoe inserts or orthotics can help redistribute pressure and support the foot in a more neutral position.
3. Casting or bracing: In some cases, casting or bracing may be used to help straighten the foot and promote proper alignment.
4. Surgery: In severe cases of congenital foot deformities, surgery may be necessary to correct the deformity. This can involve cutting or realigning bones, tendons, or other soft tissue to achieve a more normal foot position.
5. Physical therapy: After treatment, physical therapy may be recommended to help improve strength and range of motion in the affected foot.

Note: The medical information provided here is for general purposes only and should not be considered a substitute for professional medical advice, diagnosis, or treatment. If you suspect that your child may have a congenital limb deformity, it is important to consult with a qualified healthcare provider as soon as possible.

The exact cause of fibrous dysplasia is unknown, but genetic factors are suspected to play a role. It can occur sporadically or as part of certain inherited medical conditions. Fibrous dysplasia is more common in males than females and typically affects children and young adults.

The symptoms of fibrous dysplasia depend on the bones affected and may include pain, limb deformity, and difficulty moving or using affected limbs. Diagnosis is based on a combination of clinical evaluation, imaging studies such as X-rays, CT scans or MRI, and biopsy to confirm the presence of fibrous tissue in affected bones.

Treatment for fibrous dysplasia depends on the severity of symptoms and the specific bones involved, but may include medications such as bisphosphonates to slow bone growth, surgery to remove affected bone tissue or correct deformities, or radiation therapy to reduce pain and improve function. In some cases, surgical removal of affected bone tissue may be necessary.

Prognosis for fibrous dysplasia varies depending on the severity of symptoms and the specific bones involved, but in general, with appropriate treatment, most individuals with this condition can achieve significant improvement in symptoms and function. However, some individuals may experience chronic pain or disability despite treatment.

In summary, fibrous dysplasia is a developmental disorder that affects multiple bones in the body, causing pain, deformity, and impaired function of affected limbs. Diagnosis is based on clinical evaluation, imaging studies, and biopsy, and treatment options include medications, surgery, or radiation therapy. Prognosis varies depending on severity and specific bones involved.

1. Skull deformities: Synostosis can lead to abnormal growth and shape of the skull, which can cause visual disturbances, hearing loss, and other complications.
2. Respiratory problems: Fused bones in the skull can reduce the size of the nasal passages and sinuses, making it harder to breathe properly.
3. Neurological issues: Synostosis can press on the brain and spinal cord, leading to headaches, seizures, and other neurological symptoms.
4. Vision problems: The fusion of bones can cause double vision or other visual disturbances, which can affect a child's ability to learn and develop normally.
5. Hearing loss: In some cases, synostosis can lead to hearing loss due to the abnormal growth of the bones in the middle ear.
6. Sleep apnea: Synostosis can cause the airway to be narrowed or blocked, leading to sleep apnea and other breathing problems.
7. Dental problems: Fused bones in the skull can affect the alignment of teeth and lead to dental problems such as crowding, misalignment, or tooth loss.
8. Speech difficulties: Synostosis can cause speech difficulties due to the abnormal growth of the bones in the mouth and throat.
9. Feeding difficulties: Fused bones in the skull can make it harder for a child to eat properly, leading to feeding difficulties and malnutrition.
10. Emotional and social challenges: Children with synostosis may experience emotional and social challenges due to their appearance or difficulty with basic functions such as eating and breathing.

Treatment for synostosis usually involves a combination of surgery, physical therapy, and other supportive care to help manage the symptoms and improve quality of life.

The following are some common types of maxillofacial abnormalities:

1. Cleft lip and palate: A birth defect that affects the tissues of the upper jaw, nose, and mouth. It can cause problems with speech, hearing, and dental development.
2. Facial asymmetry: An imbalance or unevenness of the face, which can be caused by genetics or trauma.
3. Micrognathia: A condition where the jaw is smaller than normal, which can cause difficulty swallowing, breathing, and speaking.
4. Macroglossia: An abnormally large tongue, which can cause difficulties with speech and swallowing.
5. Dacryostenosis: A blockage of the tear ducts, which can cause tears to pool in the eyes and lead to infection.
6. Obstructive sleep apnea: A condition where the airway is blocked during sleep, leading to pauses in breathing and poor quality sleep.
7. Temporomandibular joint (TMJ) disorder: Pain or dysfunction of the joint that connects the jawbone to the skull.
8. Osteogenesis imperfecta: A genetic condition that affects the development of bones, leading to weakness and deformities.
9. Moyamoya disease: A rare condition caused by narrowing or blockage of the blood vessels in the brain, leading to stroke-like symptoms.
10. Gorlin syndrome: A genetic disorder that affects the development of the head and neck, leading to multiple basal cell carcinomas and other abnormalities.

The diagnosis of maxillofacial abnormalities is typically made through a combination of physical examination, imaging studies (such as X-rays or CT scans), and specialized tests (such as endoscopy or laryngoscopy). Treatment options for these abnormalities vary depending on the specific condition and may include surgery, medication, or other interventions. It is important to seek medical attention if you experience any symptoms of maxillofacial abnormalities to receive an accurate diagnosis and appropriate treatment.

Examples of syndromes include:

1. Down syndrome: A genetic disorder caused by an extra copy of chromosome 21 that affects intellectual and physical development.
2. Turner syndrome: A genetic disorder caused by a missing or partially deleted X chromosome that affects physical growth and development in females.
3. Marfan syndrome: A genetic disorder affecting the body's connective tissue, causing tall stature, long limbs, and cardiovascular problems.
4. Alzheimer's disease: A neurodegenerative disorder characterized by memory loss, confusion, and changes in personality and behavior.
5. Parkinson's disease: A neurological disorder characterized by tremors, rigidity, and difficulty with movement.
6. Klinefelter syndrome: A genetic disorder caused by an extra X chromosome in males, leading to infertility and other physical characteristics.
7. Williams syndrome: A rare genetic disorder caused by a deletion of genetic material on chromosome 7, characterized by cardiovascular problems, developmental delays, and a distinctive facial appearance.
8. Fragile X syndrome: The most common form of inherited intellectual disability, caused by an expansion of a specific gene on the X chromosome.
9. Prader-Willi syndrome: A genetic disorder caused by a defect in the hypothalamus, leading to problems with appetite regulation and obesity.
10. Sjogren's syndrome: An autoimmune disorder that affects the glands that produce tears and saliva, causing dry eyes and mouth.

Syndromes can be diagnosed through a combination of physical examination, medical history, laboratory tests, and imaging studies. Treatment for a syndrome depends on the underlying cause and the specific symptoms and signs presented by the patient.

Some examples of multiple abnormalities include:

1. Multiple chronic conditions: An individual may have multiple chronic conditions such as diabetes, hypertension, arthritis, and heart disease, which can affect their quality of life and increase their risk of complications.
2. Congenital anomalies: Some individuals may be born with multiple physical abnormalities or birth defects, such as heart defects, limb abnormalities, or facial deformities.
3. Mental health disorders: Individuals may experience multiple mental health disorders, such as depression, anxiety, and bipolar disorder, which can impact their cognitive functioning and daily life.
4. Neurological conditions: Some individuals may have multiple neurological conditions, such as epilepsy, Parkinson's disease, and stroke, which can affect their cognitive and physical functioning.
5. Genetic disorders: Individuals with genetic disorders, such as Down syndrome or Turner syndrome, may experience a range of physical and developmental abnormalities.

The term "multiple abnormalities" is often used in medical research and clinical practice to describe individuals who have complex health needs and require comprehensive care. It is important for healthcare providers to recognize and address the multiple needs of these individuals to improve their overall health outcomes.

The condition is caused by mutations in the GNAS gene, which encodes the alpha subunit of the PTH hormone. These mutations lead to a reduction in the amount of functional PTH produced by the parathyroid glands, resulting in hypocalcemia and other symptoms.

Symptoms of pseudohypoparathyroidism can vary in severity and may include:

1. Hypocalcemia (low blood calcium levels)
2. Tetany (muscle spasms)
3. Seizures
4. Developmental delays
5. Short stature
6. Intellectual disability
7. Dental abnormalities (such as tooth decay or missing teeth)
8. Bone deformities (such as bowed legs or knock knees)
9. Heart problems (such as atrial fibrillation or bradycardia)

Pseudohypoparathyroidism is diagnosed through a combination of clinical evaluation, laboratory tests, and imaging studies. Laboratory tests may include measurements of PTH and calcium levels in the blood, as well as genetic testing to identify mutations in the GNAS gene. Imaging studies, such as ultrasound or CT scans, may be used to evaluate the parathyroid glands and rule out other conditions that may cause similar symptoms.

Treatment for pseudohypoparathyroidism typically involves replacement therapy with PTH to normalize calcium levels and manage symptoms. In some cases, vitamin D and calcium supplements may also be prescribed to support bone health. Surgery may be recommended in cases where the parathyroid glands are causing problems or are not functioning properly. Regular monitoring of calcium and PTH levels is important to ensure that treatment is effective and to make any necessary adjustments.

In summary, pseudohypoparathyroidism is a rare genetic disorder that affects the parathyroid glands and can cause a range of symptoms related to hypoparathyroidism. Diagnosis is based on clinical evaluation, laboratory tests, and imaging studies, and treatment typically involves replacement therapy with PTH and other supplements as needed. Regular monitoring is important to ensure that treatment is effective and to make any necessary adjustments.

There are various causes of intellectual disability, including:

1. Genetic disorders, such as Down syndrome, Fragile X syndrome, and Turner syndrome.
2. Congenital conditions, such as microcephaly and hydrocephalus.
3. Brain injuries, such as traumatic brain injury or hypoxic-ischemic injury.
4. Infections, such as meningitis or encephalitis.
5. Nutritional deficiencies, such as iron deficiency or iodine deficiency.

Intellectual disability can result in a range of cognitive and functional impairments, including:

1. Delayed language development and difficulty with communication.
2. Difficulty with social interactions and adapting to new situations.
3. Limited problem-solving skills and difficulty with abstract thinking.
4. Slow learning and memory difficulties.
5. Difficulty with fine motor skills and coordination.

There is no cure for intellectual disability, but early identification and intervention can significantly improve outcomes. Treatment options may include:

1. Special education programs tailored to the individual's needs.
2. Behavioral therapies, such as applied behavior analysis (ABA) and positive behavior support (PBS).
3. Speech and language therapy.
4. Occupational therapy to improve daily living skills.
5. Medications to manage associated behaviors or symptoms.

It is essential to recognize that intellectual disability is a lifelong condition, but with appropriate support and resources, individuals with ID can lead fulfilling lives and reach their full potential.

... type A1 at NIH's Office of Rare Diseases Brachydactyly type A2 at NIH's Office of Rare Diseases Brachydactyly ... Brachydactyly-mesomelia-intellectual disability-heart defects syndrome or if brachydactyly is not isolated and is a part of a ... "What Is Brachydactyly?". WebMD. Retrieved 2022-10-13. Meiselman SA, Berkenstadt M, Ben-Ami T, Goodman RM (1989). "Brachydactyly ... There are several types of brachydactyly: In the above brachydactyly syndromes, short digits are the most prominent of the ...
... , also known as short thumb or stub thumb and inaccurately referred to as clubbed thumb, is a condition ... "OMIM Entry - # 113200 - BRACHYDACTYLY, TYPE D; BDD". omim.org. Retrieved 2019-08-17. GOODMAN RM; ADAM A; SHEBA C (1965). "A ... It is the most common type of brachydactyly, or shortness of digits, affecting approximately 2-3% of the population, and is ... Williams, Kimberly D. (2013-09-10). "Non-Syndromic Brachydactyly Type D and Type E Mapped to 7p15 in Healthy Children and ...
... is a very rare genetic disorder which is characterized by symmetric brachydactyly of the ... "OMIM Entry - 112430 - LONG-THUMB BRACHYDACTYLY SYNDROME". omim.org. Retrieved 2022-05-20. "Brachydactyly-long thumb syndrome - ... "Brachydactyly long thumb type - About the Disease - Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. ... "Brachydactyly-long thumb syndrome". www.ebi.ac.uk. Retrieved 2022-05-20. RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: ...
... (HTNB), also known as Bilginturan syndrome and brachydactyly type E among others, is a ... "HYPERTENSION AND BRACHYDACTYLY SYNDROME; HTNB". www.omim.org. Retrieved 2017-01-19. "Brachydactyly arterial hypertension ... The disorder is characterized by: severe salt-independent but age-dependent hypertension brachydactyly malformations of the ... Bilginturan, N.; Zileli, S.; Karacadag, S.; Pirnar, T. (1973-09-01). "Hereditary Brachydactyly Associated with Hypertension". ...
... , also known as 'Christian brachydactyly, is a rare congenital and genetic limb ... "Orphanet: Brachydactyly preaxial hallux varus syndrome". www.orpha.net. Retrieved 2022-07-03. "Brachydactyly-preaxial hallux ... "Entry - 112450 - Brachydactyly, preaxial, with hallus varus and thumb abduction - OMIM". omim.org. Retrieved 2022-07-03. v t e ... "Brachydactyly preaxial with hallux varus and thumb abduction - About the Disease - Genetic and Rare Diseases Information Center ...
... is a very rare genetic disorder which is characterized by the partial ... "OMIM Entry - 306980 - HIRSCHSPRUNG DISEASE WITH TYPE D BRACHYDACTYLY". omim.org. Retrieved 2022-05-15. Reynolds, J. F.; Barber ... "Orphanet: Hirschsprung disease type D brachydactyly syndrome". www.orpha.net. Retrieved 2022-05-15. "Hirschsprung disease type ... brachydactyly type D). It has been described in 4 males from a 2-generation American family. The inheritance pattern was ...
... is a very rare genetic disorder which is characterized by thumb ... "Thumbs, Stiff, with Brachydactyly Type A1 and Developmental Delay". MalaCards. Retrieved 2022-05-13. (Articles needing cleanup ... "Thumb stiffness-brachydactyly-intellectual disability syndrome - About the Disease - Genetic and Rare Diseases Information ... "OMIM Entry - 188201 - THUMBS, STIFF, WITH BRACHYDACTYLY TYPE A1 AND DEVELOPMENTAL DELAY". omim.org. Retrieved 2022-05-13. " ...
... , also known as Sorbsy syndrome is a rare genetic disorder which is ... "Entry - 120400 - Coloboma of macula with type B brachydactyly". omim.org. Retrieved 2022-07-01. v t e (CS1 Spanish-language ... "Orphanet: Coloboma of macula brachydactyly type B Sorsby syndrome". www.orpha.net (in Spanish). Retrieved 2022-07-01. "Coloboma ... "Coloboma of macula with type B brachydactyly". NORD (National Organization for Rare Disorders). Retrieved 2022-07-01. " ...
Onychodystrophy Anonychia Fifth finger brachydactyly (Brachydactyly type A3) Thumb digitalization Hypo/aplasia of the digits' ... Anonychia-onychodystrophy with brachydactyly type B and ectrodactyly is a very rare autosomal dominant disorder which is ... "Anonychia-onychodystrophy with brachydactyly type B and ectrodactyly - About the Disease - Genetic and Rare Diseases ... Kumar, D.; Levick, R. K. (2008-04-23). "Autosomal dominant onychodystrophy and anonychia with type B brachydactyly and ...
Brachydactyly type D Syndactyly Minor physical anomalies "Dystelephalangy". Gujjar, Rakesh; Khanna, Vikram; Kollu, Raja; ... Temtamy, Samia A; Aglan, Mona S (2008-06-13). "Brachydactyly". Orphanet Journal of Rare Diseases. 3: 15. doi:10.1186/1750-1172- ... Camptodactyly Clinodactyly Mallet finger Fracture Brachydactyly type A3 (also known as brachymesophalangy type V) This hand ... Silver syndrome Cornelia de Lange syndrome Down syndrome This condition is considered to be a type of isolated brachydactyly. A ...
Mutations in this gene are associated with acromesomelic dysplasia, Hunter-Thompson type; brachydactyly, type C; and ... "Mutations in CDMP1 cause autosomal dominant brachydactyly type C". Nat Genet. 17 (1): 18-9. doi:10.1038/ng0997-18. hdl:2066/ ... gene in a kindred affected with fibular hypoplasia and complex brachydactyly (DuPan syndrome)". Clin. Genet. 61 (6): 454-8. doi ...
GDF5 Brachydactyly type B1; 113000; ROR2 Brachydactyly type B2; 611377; NOG Brachydactyly type C; 113100; GDF5 Brachydactyly ... SIX1 Brachydactyly type A1; 112500; BDA1B Brachydactyly type A1; 112500; IHH Brachydactyly type A2; 112600; BMPR1B ... type D; 113200; HOXD13 Brachydactyly type E; 113300; HOXD13 Brachydactyly type E2; 613382; PTHLH Brachydactyly-syndactyly ... KIF21A Fibular hypoplasia and complex brachydactyly; 228900; GDF5 Fish-eye disease; 136120; LCAT Fletcher factor deficiency; ...
A generalized reduction in bone size causes rhizomelia; disproportionally short limbs, brachydactyly; short fingers and toes, a ...
Brachydactyly or Syndactyly 4. Polyuria and/or polydipsia (nephrogenic diabetes insipidus) 5. Ataxia, poor coordination, ...
Brachydactyly and camptodactyly occur; fingers are short and abnormally bent. These changes in finger shape result in small ... 2000). "Liebenberg syndrome: brachydactyly with joint dysplasia (MIM 186550)". Journal of Medical Genetics. 37 (7): 548-551. ... of the bony components of the elbow Abnormal shape of carpal bones Brachydactyly, a symptom where the fingers and toes are ...
"Paraplegia - brachydactyly - cone-shaped epiphysis". ORPHANET. Retrieved 2007-03-17. Fitzsimmons J, Guilbert P (1987). "Spastic ... Both had skeletal abnormalities of the hands and feet: brachydactyly, cone-shaped epiphyses, and an abnormal metaphyseal- ... Hennekam R (1994). "Spastic paraplegia, dysarthria, brachydactyly, and cone shaped epiphyses: confirmation of the Fitzsimmons ... and brachydactyly type E: a new syndrome or variant of Fitzsimmons-Guilbert syndrome?". Am J Med Genet. 84 (2): 90-3. doi: ...
Skeletal dysplasia (dwarfism, short stature) Brachydactyly Advanced bone age Bone plate fusing Scoliosis Pain - joint, hip, ... Arkless R, Graham CB (1967). "An unusual case of brachydactyly. Peripheral dysostosis? Pseudo-pseudo-hypoparathyroidism? Cone ...
The family described by Biemond had a few members across four generations who had brachydactyly (due to one short metacarpal ... "OMIM Entry - 113400 - BRACHYDACTYLY-NYSTAGMUS-CEREBELLAR ATAXIA". omim.org. Retrieved 2019-12-23. Beighton, Greta (2012-12-06 ... Biemond syndrome is a genetic disorder characterised by brachydactyly, nystagmus, strabismus, cerebellar ataxia and ...
Holt-Oram syndrome, Brachydactyly-long thumb syndrome, Patent ductus arteriosus-bicuspid aortic valve syndrome and Heart-hand ... It causes sudden cardiac death due to ventricular tachycardia, and it prominently causes a unique type of brachydactyly with ... A unique feature in the syndrome is symmetric brachydactyly with long thumbs. It has been confirmed that Patent ductus ... As of July 2013[update], known heart-hand syndromes include Holt-Oram syndrome, Berk-Tabatznik syndrome, brachydactyly-long ...
Ichthyosis Brachydactyly Clinodactyly "Ruzicka Goerz Anton syndrome". Check Orphan. Retrieved 2011-09-02. "Ruzicka-Goerz-Anton ... Further studies showed several skeletal deformities including brachydactyly, clinodactyly, and extra ribs. One year earlier, ... brachydactyly, clinodactyly, accessory cervical ribs and carcinoma of the thyroid". Dermatologica. 162 (2): 124-36. doi:10.1159 ...
"Orphanet: Intellectual disability sparse hair brachydactyly syndrome". www.orpha.net. Retrieved 17 March 2019. Van Houdt, ... brachydactyly, and prominent finger joints and broad distal phalanges. Mild prenatal growth retardation Moderate postnatal ...
... brachydactyly); and distinctive eye (ocular) abnormalities. It was named after ophthalmologists Georges Weill (1866-1952) and ...
This condition is one of the causes of brachydactyly. Prevalence of brachymetacarpia is unknown. The third, fourth, and fifth ...
Brachydactyly Heart-hand syndromes "Orphanet: Polydactyly of a triphalangeal thumb". Merlob, P.; Grunebaum, M.; Reisner, S. H ...
"OMIM Entry - 113310 - BRACHYDACTYLY-ECTRODACTYLY WITH FIBULAR APLASIA OR HYPOPLASIA". omim.org. Retrieved 2022-05-14. "Fibular ... Bissonnette, Bruno; Luginbuehl, Igor; Engelhardt, Thomas (2019), "Brachydactyly-Ectrodactyly, Fibular Aplasia/Hypoplasia ... and/or brachydactyly/syndactyly. Additional symptoms include shortness of the femur and tibial/knee/hip/ankle defects. This ...
Tiberio G, Digilio MC, Graziani M, Testa F, Giannotti A (2000). "Liebenberg syndrome: brachydactyly with joint dysplasia (MIM ...
... brachydactyly of the distal phalanges, sensorineural deafness Nonsyndromic deafness; hearing loss Norrie disease; cataracts, ...
2002). "A novel mutation in the IHH gene causes brachydactyly type A1: a 95-year-old mystery resolved". Hum. Genet. 111 (4-5): ... 2003). "Identification of a mutation in the Indian Hedgehog (IHH) gene causing brachydactyly type A1 and evidence for a third ... Recently, Ihh mutations are shown to cause brachydactyly type A1 (BDA1), the first Mendelian autosomal dominant disorder in ... 2001). "Mutations in IHH, encoding Indian hedgehog, cause brachydactyly type A-1". Nat. Genet. 28 (4): 386-8. doi:10.1038/ng577 ...
"Mutations in HOXD13 Underlie Syndactyly Type V and a Novel Brachydactyly-Syndactyly Syndrome". Am. J. Hum. Genet. 80 (2): 361- ...
Heart-hand syndromes Heart-hand syndrome, Spanish type Brachydactyly-long thumb syndrome Brachydactyly Brachymetatarsia Minor ... Self insecurity (sometimes) associated with brachydactyly This condition is caused by a splice site mutation in the LMNA gene, ... syndactyly and brachydactyly that affects the feet more than the hands. There are various complications associated with this ... and brachydactyly. A new type of heart-hand syndrome?". Clinical Genetics. 68 (2): 155-160. doi:10.1111/j.1399-0004.2005.00476. ...
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely. ...
Find symptoms and other information about Brachydactyly type A3. ... About Brachydactyly type A3. Many rare diseases have limited ... Brachydactyly type A3. Other Names: BDA3; Brachydactyly-clinodactyly; Brachymesophalangy 5BDA3; Brachydactyly-clinodactyly; ... When Do Symptoms of Brachydactyly type A3 Begin?. This section is currently in development. ...
Brachydactyly type B (BDB), an autosomal dominant disorder, is the most severe of the brachydactylies and characterized by ... Dominant mutations in ROR2, encoding an orphan receptor tyrosine kinase, cause brachydactyly type B M Oldridge 1 , A M Fortuna ... A novel variant in the ROR2 gene underlying brachydactyly type B: a case report. Shao J, Liu Y, Zhao S, Sun W, Zhan J, Cao L. ... Dominant mutations in ROR2, encoding an orphan receptor tyrosine kinase, cause brachydactyly type B M Oldridge et al. Nat Genet ...
A brachydactyly characterized by autosomal dominant inheritance of malformations of the middle phalanx of the index finger and ...
In other species: chicken , dog , pig Categories: Limbs / digit / tail phene Links to MONDO diseases: No links. Mendelian trait/disorder: yes Mode of inheritance: Autosomal recessive Considered a defect: yes Key variant known: no Cross-species summary: Abnormal shortness of the digits. Species-specific symbol: br Species-specific description: See Robinson (1958, pp. 341-342) ...
Brachydactyly. Health and Medicine Reference Covering Thousands of Diseases and Prescription Drugs. ... Brachydactyly. Brachydactyly type a1. Bradykinesia. Brights disease. Brittle bone disease. Bromidrosiphobia. Bronchiectasis. ... Brachydactyly Type A2. Type A2 is a very rare form of brachydactyly. The phalanges of the index fingers and second toes are ... Brachydactyly. Brachydactyly is a medical term which literally means "shortness of the fingers and toes" (digits). The ...
"Hypertension/Brachydactyly Syndrome", the gene for which has yet to be identified. These individuals suffer brachydactyly a ...
Brachydactyly-mesomelia-intellectual disability-heart defects syndrome. Get in touch with RARE Concierge.. Contact RARE ... Brachydactyly-mesomelia-intellectual disability-heart defects syndrome?. Our RARE Concierge Services Guides are available to ... Brachydactyly-mesomelia-intellectual disability-heart defects syndrome. Synonyms: Stratton-Garcia-Young syndrome ... Brachydactyly-mesomelia-intellectual disability-heart defects syndrome is a rare genetic multiple congenital anomalies/ ...
A three-generation family with metaphyseal dysplasia, maxillary hypoplasia and brachydactyly (MDMHB) due to intragenic RUNX2 ... Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly (MDMHB) is an autosomal-dominant skeletal dysplasia ... brachydactyly, dental anomalies and mild osteoporosis. To date, only one large French Canadian family and a Finnish woman have ...
Q74.80 Brachydactyly. Checklist for high-quality reporting. Checklist for high-quality reporting. Split Hand and Foot - ...
brachydactyly); wedge-shaped spinal bones (hemivertebrae) leading to an abnormal curvature of the spine (kyphoscoliosis. ); ... allelic to dominant brachydactyly type B, is caused by mutation of ROR2. Nat Genet. 2000 Aug;25(4):419-22. doi: 10.1038/78107. ...
The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This ... The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This ... Brachydactyly Glaucoma High myopia Short stature Short thumb Abnormality of cardiovascular system morphology Ectopia lentis ...
The hand deformity consists of brachydactyly, hand hypoplasia, and simple syndactyly. The central digits are most often ...
A three-generation family with metaphyseal dysplasia, maxillary hypoplasia and brachydactyly (MDMHB) due to intragenic RUNX2 ...
PDZD2, a candidate gene for brachydactyly type A1, encodes a secreted protein that negatively modulates hedgehog signaling. en_ ... Conference Paper: PDZD2, a candidate gene for brachydactyly type A1, encodes a secreted protein that negatively modulates ... PDZD2, a candidate gene for brachydactyly type A1, encodes a secreted protein that negatively modulates hedgehog signaling. ...
brachydactyly), and joint stiffness. Adult height for men with Weill-Marchesani syndrome ranges from 4 feet, 8 inches to 5 feet ...
Malformations of the fingers: polydactyly, syndactyly, brachydactyly -Cardiac abnormalities: atrial and ventricular septal ...
Malformations of the fingers: polydactyly, syndactyly, brachydactyly *Cardiac abnormalities: atrial and ventricular septal ...
hypertension and brachydactyly syndrome hypogonadotropic hypogonadism 1 with or without anosmia hypogonadotropic hypogonadism ...
brachydactyly), with the exception of the first (big) toes. Other skeletal abnormalities associated with spondyloperipheral ...
KBG syndrome presenting with brachydactyly type E.. Libianto R; Wu KH; Devery S; Eisman JA; Center JR. Bone; 2019 Jun; 123():18 ...
... brachydactyly, pes planus, short neck; neurological clinical findings: defective vision, strabismus, weakness, hypotonia, ... brachydactyly, pes planus, short neck; neurological clinical findings: defective vision, strabismus, weakness, hypotonia, ...
Megan Fox was born with a condition called "brachydactyly" thumbs, which means that her thumbs are slightly clubbed or ...
Brachydactyly Preferred Concept UI. M0549414. Scope Note. Congenital anomaly of abnormally short fingers or toes.. Terms. ... Brachydactyly Preferred Term Term UI T776491. Date08/30/2010. LexicalTag NON. ThesaurusID NLM (2012). ... Brachydactyly. Tree Number(s). C05.660.585.262. C16.131.621.585.262. Unique ID. D059327. RDF Unique Identifier. http://id.nlm. ...
... brachydactyly,obesity, and mental retardation. It should be notedthat brachydactyly is the most specific feature of AHO[4]. ...
There is significant micromelia with redundant skin folds and brachydactyly with a trident hand configuration is common. ...
A novel mutation in PTHLH in a family with a variable phenotype with brachydactyly, short stature, oligodontia and ...
How many entities exist for the spectrum of disorders associated with brachydactyly, syndactyly, short stature, microcephaly, ... brachydactyly and clinodactyly of the middle phalanx of both 5th fingers, delay in bone age, c hypoplastic scapulae (arrow), ... brachydactyly and clinodactyly of the middle phalanx of both 5th fingers, short 4th metacarpals, radial and femoral head ...
... brachydactyly or polydactyly), retinal dystrophy or pigmentary retinopathy, hypogonadism and kidney structural abnormalities or ...
  • In isolated brachydactyly, the inheritance is mostly autosomal dominant with variable expressivity and penetrtance. (nih.gov)
  • A brachydactyly characterized by autosomal dominant inheritance of malformations of the middle phalanx of the index finger and anomalies of the second toe that has_material_basis_in heterozygous mutation in the BMPR1B gene on chromosome 4q or in the GDF5 gene on chromosome 20q11 or heterozygous duplication in a regulatory element of BMP2 on chromosome 20p12. (zfin.org)
  • Brachydactyly type A1 is an autosomal dominant inherited disease. (the-medical-dictionary.com)
  • Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly (MDMHB) is an autosomal-dominant skeletal dysplasia characterised by metaphyseal flaring of the long bones , enlargement of the medial halves of the clavicles , maxillary hypoplasia, brachydactyly , dental anomalies and mild osteoporosis . (bvsalud.org)
  • 5. Ulnar/fibular ray defect and brachydactyly in a family: a possible new autosomal dominant syndrome. (nih.gov)
  • Brachydactyly ("short digits") is a general term that refers to disproportionately short fingers and toes, and forms part of the group of limb malformations characterized by bone dysostosis. (nih.gov)
  • Brachydactyly is a medical term which literally means "shortness of the fingers and toes" (digits). (the-medical-dictionary.com)
  • These individuals suffer brachydactyly a relative shortening of the fingers and toes, see picture) and severe hypertension, with systolic blood pressures often well greater than 200. (renalfellow.org)
  • brachydactyly), with the exception of the first (big) toes. (medlineplus.gov)
  • The Bell classification of brachydactyly (summarized in Temtamy and McKusick [1969]) is a complex assessment of hand patterning - that usage of the word brachydactyly is independent of the use here. (nih.gov)
  • The various types of isolated brachydactyly are rare, except for types A3 and D. Brachydactyly can occur either as an isolated malformation or as a part of a complex malformation syndrome. (nih.gov)
  • In the above brachydactyly syndromes, short digits are the most prominent of the anomalies, but in many other syndromes (Down's syndrome, Rubinstein-Taybi syndrome, etc), brachydactyly is a minor feature compared to the other anomalies or problems comprising the syndrome. (the-medical-dictionary.com)
  • One additional piece of evidence against the "hypetensive nephrosclerosis" hypothesis is the existence of a rare, autosomal recessive disorder termed "Hypertension/Brachydactyly Syndrome", the gene for which has yet to be identified. (renalfellow.org)
  • Brachydactyly-mesomelia-intellectual disability-heart defects syndrome is a rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay intellectual disability thin habitus with narrow shoulders mesomelic shortness of the arms craniofacial dysmorphism (e.g. long lower face maxillary hypoplasia beak nose short columella prognathia high arched palate obtuse mandibular angle) brachydactyly (mostly involving middle phalanges) and cardiovascular anomalies (i.e. aortic root dilatation mitral valve prolapse). (globalgenes.org)
  • Newly diagnosed with Brachydactyly-mesomelia-intellectual disability-heart defects syndrome? (globalgenes.org)
  • A three-generation family with metaphyseal dysplasia, maxillary hypoplasia and brachydactyly (MDMHB) due to intragenic RUNX2 duplication. (bvsalud.org)
  • 6. [Brachydactyly type A4 (brachymesophalangia II and V, Temtamy type). (nih.gov)
  • 12. New skeletal dysplasia with unique brachydactyly. (nih.gov)
  • The nature of genetic counseling depends both on the pattern of inheritance of the type of brachydactyly present in the family and on the presence or absence of accompanying symptoms. (nih.gov)
  • When Do Symptoms of Brachydactyly type A3 Begin? (nih.gov)
  • Type A2 is a very rare form of brachydactyly. (the-medical-dictionary.com)
  • This pattern strongly sustains the diagnosis of brachydactyly type D described further in the Diagnosis Gallery . (medword.net)
  • A rare type of brachydactyly]. (nih.gov)
  • 7. Brachydactyly type C. (nih.gov)
  • 13. [Type C hereditary brachydactyly]. (nih.gov)
  • 8. Familial Hirschsprung's disease and type D brachydactyly: a report of four affected males in two generations. (nih.gov)
  • When Brachydactyly type x is used, this refers to the Bell classification patterns. (nih.gov)
  • Brachydactyly (BD) essentially refers to short digits. (pacs.de)
  • 11. A new form of spondyloperipheral dysplasia with facial dysmorphism, flattened vertebrae, hypoplastic pelvis, brachydactyly and soft tissue syndactyly. (nih.gov)
  • For the majority of isolated brachydactylies and some syndromic forms of brachydactyly, the causative gene defect has been identified. (nih.gov)
  • When Brachydactyly of the hand is used, it solely refers to reduced length of the specified digits. (nih.gov)
  • Prenatal diagnosis is usually not indicated for isolated forms of brachydactyly, but may be appropriate in syndromic forms. (nih.gov)
  • 18. Preaxial brachydactyly with abduction of thumbs and hallux varus: a distinct entity. (nih.gov)
  • Megan Fox was born with a condition called "brachydactyly" thumbs, which means that her thumbs are slightly clubbed or misshapen. (listverse.com)
  • Different types of brachydactyly are classified according to their clinical and radiographic features of phalangeal or metacarpal involvement. (pacs.de)
  • There is significant micromelia with redundant skin folds and brachydactyly with a trident hand configuration is common. (orpha.net)
  • In isolated brachydactyly, subtle changes elsewhere may be present. (nih.gov)
  • Brachydactyly-short stature-hypertension (Bilginturan) syndrome: report on two families. (nih.gov)
  • 8. RBBP8 syndrome with microcephaly, intellectual disability, short stature and brachydactyly. (nih.gov)
  • It is hypothesized from the radiological appearance of patients at different ages that FDAB might result from subchondral pathology primarily affecting the heads of the phalanges, metacarpals, and metatarsals, with the arthropathy and brachydactyly being secondary effects. (nih.gov)
  • A form of brachydactyly that presents with the characteristic features of brachydactyly type A2 (shortening of the middle phalanges of the index finger and, sometimes, of the little finger) and type D (shortening of the distal phalanx of the thumb) plus various additional features. (cdc.gov)
  • We have designated the condition familial digital arthropathy-brachydactyly (FDAB). (nih.gov)