Chondrodysplasia Punctata, Rhizomelic
Exostoses, Multiple Hereditary
Antenatal ultrasonographic diagnosis of rhizomelic chondrodysplasia punctata. (1/23)Rhizomelic chondrodysplasia punctata is an autosomal recessive disorder characterized by stippled epiphyses and rhizomelic shortening of the long bones. Most fetuses with the disorder die in utero or shortly thereafter, and the few that survive suffer severe debility and profound mental retardation. Death ensues in the first decade of life. Relatively few reports discuss antenatal ultrasonographic diagnosis of rhizomelic chondrodysplasia punctata. We describe the prospective antenatal diagnosis of rhizomelic chondrodysplasia punctata in a fetus with no family history of the disorder, based on the sonographic findings of severe rhizomelic limb shortening in combination with premature ossification and stippling of multiple epiphyses. The ultrasonographic features and differential diagnosis of rhizomelic chondrodysplasia punctata are elaborated. (+info)
Ether lipid biosynthesis: alkyl-dihydroxyacetonephosphate synthase protein deficiency leads to reduced dihydroxyacetonephosphate acyltransferase activities. (2/23)Recent studies have indicated that two peroxisomal enzymes involved in ether lipid synthesis, i.e., dihydroxyacetonephosphate acyltransferase and alkyl-dihydroxyacetonephosphate synthase, are directed to peroxisomes by different targeting signals, i.e., peroxisomal targeting signal type 1 and type 2, respectively. In this study, we describe a new human fibroblast cell line in which alkyl-dihydroxyacetonephosphate synthase was found to be deficient both at the level of enzyme activity and enzyme protein. At the cDNA level, a 128 base pair deletion was found leading to a premature stop. Remarkably, dihydroxyacetonephosphate acyltransferase activity was strongly reduced to a level comparable to the activities measured in fibroblasts from patients affected by the classical form of rhizomelic chondrodysplasia punctata (caused by a defect in peroxisomal targeting signal type 2 import). Dihydroxyacetonephosphate acyltransferase activity was completely normal in another alkyl-dihydroxyacetonephosphate synthase activity-deficient patient. Fibroblasts from this patient showed normal levels of the synthase protein and inactivity results from a point mutation leading to an amino acid substitution. These results strongly suggest that the activity of dihydroxyacetonephosphate acyltransferase is dependent on the presence of alkyl-dihydroxyacetonephosphate synthase protein. This interpretation implies that the deficiency of dihydroxyacetonephosphate acyltransferase (targeted by a peroxisomal targeting signal type 1) in the classic form of rhizomelic chondrodysplasia punctata is a consequence of the absence of the alkyl-dihydroxyacetonephosphate synthase protein (targeted by a peroxisomal targeting signal type 2). (+info)
MR imaging and MR spectroscopy in rhizomelic chondrodysplasia punctata. (3/23)A case of rhizomelic chondrodysplasia punctata was investigated with MR imaging of the brain and hydrogen-1 MR spectroscopy of the brain and blood. Areas with abnormal signal hyperintensity on T2-weighted images or hypointensity on T1-weighted images were detected in the subcortical white matter. MR spectroscopy of the brain showed that normal-appearing white matter was characterized by increased levels of mobile lipids and myo-inositol, reduced levels of choline, and the presence of acetate. The importance of these metabolic anomalies is correlated to the deficiency in plasmalogen biosynthesis. (+info)
Functional studies on human Pex7p: subcellular localization and interaction with proteins containing a peroxisome-targeting signal type 2 and other peroxins. (4/23)Pex7p is a WD40-containing protein involved in peroxisomal import of proteins containing an N-terminal peroxisome-targeting signal (PTS2). The interaction of human recombinant Pex7p expressed in different hosts/systems with its PTS2 ligand and other peroxins was analysed using various experimental approaches. Specific binding of human Pex7p to PTS2 could be demonstrated only when Pex7p was formed in vitro by a coupled transcription/translation system or synthesized in vivo in Chinese hamster ovary K1 cells transfected with a construct coding for a Pex7p-green fluorescent protein (GFP) fusion protein. Apparently, no cofactors are required and only monomeric Pex7p binds to PTS2. The interaction is reduced upon cysteine alkylation and is impaired upon truncation of the N-terminus of Pex7p. Interaction of Pex7p with other peroxins could not be demonstrated in bacterial or yeast two-hybrid screens, or in pull-down binding assays. The GFP fusion proteins, tagged at either the N- or C-terminus, were able to restore PTS2 import in rhizomelic chondrodysplasia punctata fibroblasts, and Pex7p-GFP was located both in the lumen of peroxisomes and in the cytosol. (+info)
Inactivation of ether lipid biosynthesis causes male infertility, defects in eye development and optic nerve hypoplasia in mice. (5/23)Although known for almost 80 years, the physiological role of plasmalogens (PLs), the major mammalian ether lipids (ELs), is still enigmatic. Humans that lack ELs suffer from rhizomelic chondrodysplasia punctata (RCDP), a peroxisomal disorder usually resulting in death in early childhood. In order to learn more about the functions of ELs, we generated a mouse model for RCDP by a targeted disruption of the dihydroxyacetonephosphate acyltransferase gene. The mutant mice revealed multiple abnormalities, such as male infertility, defects in eye development, cataract and optic nerve hypoplasia, some of which were also observed in RCDP. Mass spectroscopic analysis demonstrated the presence of highly unsaturated fatty acids including docosahexaenoic acid (DHA) in brain PLs and the occurrence of PLs in lipid raft microdomains (LRMs) isolated from brain myelin. In mutants, PLs were completely absent and the concentration of brain DHA was reduced. The marker proteins flotillin-1 and F3/contactin were found in brain LRMs in reduced concentrations. In addition, the gap junctional protein connexin 43, known to be recruited to LRMs and essential for lens development and spermatogenesis, was down-regulated in embryonic fibroblasts of the EL-deficient mice. Free cholesterol, an important constituent of LRMs, was found in these fibroblasts to be accumulated in a perinuclear compartment. These data suggest that the EL-deficient mice allow the identification of new phenotypes not related so far to EL-deficiency (male sterility, defects in myelination and optic nerve hypoplasia) and indicate that PLs are required for the correct assembly and function of LRMs. (+info)
Impaired neuronal migration and endochondral ossification in Pex7 knockout mice: a model for rhizomelic chondrodysplasia punctata. (6/23)Rhizomelic chondrodysplasia punctata is a human autosomal recessive disorder characterized by skeletal, eye and brain abnormalities. The disorder is caused by mutations in the PEX7 gene, which encodes the receptor for a class of peroxisomal matrix enzymes. We describe the generation and characterization of a Pex7 mouse knockout (Pex7(-/-)). Pex7(-/-) mice are born severely hypotonic and have a growth impairment. Mortality in Pex7(-/-) mice is highest in the perinatal period although some Pex7(-/-) mice survived beyond 18 months. Biochemically Pex7(-/-) mice display the abnormalities related to a Pex7 deficiency, i.e. a severe depletion of plasmalogens, impaired alpha-oxidation of phytanic acid and impaired beta-oxidation of very-long-chain fatty acids. In the intermediate zone of the developing cerebral cortex Pex7(-/-) mice have an increase in neuronal density. In vivo neuronal birthdating revealed that Pex7(-/-) mice have a delay in neuronal migration. Analysis of bone ossification in newborn Pex7(-/-) mice revealed a defect in ossification of distal bone elements of the limbs as well as parts of the skull and vertebrae. These findings demonstrate that Pex7 knockout mice provide an important model to study the role of peroxisomal functioning in the pathogenesis of the human disorder. (+info)
The import receptor Pex7p and the PTS2 targeting sequence. (7/23)This chapter concerns one branch of the peroxisome import pathway for newly-synthesized peroxisomal proteins, specifically the branch for matrix proteins that contain a peroxisome targeting sequence type 2 (PTS2). The structure and utilization of the PTS2 are discussed, as well as the properties of the receptor, Pex7p, which recognizes the PTS2 sequence and conveys these proteins to the common translocation machinery in the peroxisome membrane. We also describe the recent evidence that this receptor recycles into the peroxisome matrix and back out to the cytosol in the course of its function. Pex7p is assisted in its functioning by several species-specific auxiliary proteins that are described in the following chapter. (+info)
Peroxisome biogenesis disorders. (8/23)Defects in PEX genes impair peroxisome assembly and multiple metabolic pathways confined to this organelle, thus providing the biochemical and molecular bases of the peroxisome biogenesis disorders (PBD). PBD are divided into two types--Zellweger syndrome spectrum (ZSS) and rhizomelic chondrodysplasia punctata (RCDP). Biochemical studies performed in blood and urine are used to screen for the PBD. DNA testing is possible for all of the disorders, but is more challenging for the ZSS since 12 PEX genes are known to be associated with this spectrum of PBD. In contrast, PBD-RCDP is associated with defects in the PEX7 gene alone. Studies of the cellular and molecular defects in PBD patients have contributed significantly to our understanding of the role of each PEX gene in peroxisome assembly. (+info)
The term "chondrodysplasia" refers to a group of disorders that affect the development of cartilage and bone, while "punctata" means "spotted" or "speckled" in Latin. This refers to the characteristic punctate (small, dark spots) appearance of the skin and other tissues in individuals with CDP.
CDP is caused by mutations in genes that are involved in the formation and maintenance of cartilage and bone. The disorder typically affects both males and females equally, and the age of onset and severity of symptoms can vary widely. In addition to the characteristic physical features of CDP, individuals with this condition may also experience joint pain, hearing loss, and other health problems.
There is no cure for chondrodysplasia punctata, but treatment options are available to manage the associated symptoms and improve quality of life. These may include physical therapy, medication, and surgery. With appropriate care and support, individuals with CDP can lead fulfilling lives despite their condition.
The term "chondrodysplasia" refers to a group of genetic disorders that affect the development of cartilage and bone. "Punctata" means "spotted" in Latin, referring to the small, dark spots on the skin that are a hallmark of the condition. "Rhizomelic" refers to the shortening of the limbs, particularly the arms and legs.
The exact prevalence of CDPR is not known, but it is estimated to affect approximately 1 in 1 million births worldwide. The disorder is caused by mutations in genes that are important for cartilage and bone development, and it can be inherited in an autosomal dominant or recessive pattern, depending on the specific mutation.
The symptoms of CDPR usually become apparent during early childhood and may include:
* Short stature with shortened limbs
* Joint deformities, such as clubfoot or bowed legs
* Characteristic skin changes, including small, dark spots on the skin
* Delayed development of motor skills
* Intellectual disability in some cases
There is no cure for CDPR, but treatment may include physical therapy, braces or splints to help straighten joints, and surgery to correct deformities. In some cases, medication may be prescribed to manage associated conditions such as pain or inflammation.
The prognosis for individuals with CDPR varies depending on the severity of the disorder and the presence of any additional health issues. Some individuals with mild forms of the condition may lead relatively normal lives, while others may experience significant limitations in their daily activities and quality of life. Early diagnosis and appropriate management are important to help optimize outcomes for individuals with CDPR.
Peroxisomal disorders can be caused by mutations in genes that encode peroxisomal enzymes or other proteins involved in peroxisome function. These mutations can lead to a range of symptoms, including developmental delay, intellectual disability, seizures, and a variety of physical abnormalities.
There are several types of peroxisomal disorders, including:
1. Zellweger syndrome: This is the most common type of peroxisomal disorder, and it is caused by mutations in the PEX1 gene. It is characterized by severe developmental delay, intellectual disability, seizures, and physical abnormalities such as a small head, short stature, and vision loss.
2. Neonatal adrenoleukodystrophy (NALD): This is a rare and fatal disorder caused by mutations in the ABCD1 gene. It is characterized by progressive loss of myelin, a fatty insulating layer that surrounds nerve fibers, leading to severe brain damage and death in early childhood.
3. Peroxisomal biogenesis disorder (PBD): This is a group of rare disorders caused by mutations in several different genes involved in peroxisome biogenesis. Symptoms can vary widely, but may include developmental delay, intellectual disability, seizures, and physical abnormalities.
4. X-linked adrenoleukodystrophy (X-ALD): This is a rare disorder caused by mutations in the ABCD1 gene, which is located on the X chromosome. It is characterized by progressive loss of myelin leading to severe brain damage and death in early childhood.
Peroxisomal disorders are usually diagnosed through a combination of clinical evaluation, laboratory tests, and genetic analysis. Treatment for these disorders is limited and often focuses on managing symptoms and preventing complications. Some potential treatments include:
1. Bone marrow transplantation: This may be effective in certain cases of adrenoleukodystrophy and other peroxisomal disorders, although the procedure carries significant risks and is not always available or appropriate for all patients.
2. Enzyme replacement therapy (ERT): This involves replacing the missing enzyme with a synthetic version, which can help to reduce symptoms and slow disease progression in some cases.
3. Dietary changes: In some cases, dietary modifications may be helpful in managing symptoms and preventing complications of peroxisomal disorders. For example, patients with X-linked adrenoleukodystrophy may benefit from a diet low in saturated fats and very long-chain fatty acids.
4. Physical therapy and occupational therapy: These interventions can help to improve mobility, balance, and cognitive function in patients with peroxisomal disorders.
5. Supportive care: This may include medications to manage seizures, pain, and other symptoms, as well as support for respiratory and other bodily functions in more severe cases of the disorders.
6. Stem cell therapy: This is a promising area of research that may offer new treatment options for peroxisomal disorders in the future.
7. Gene therapy: This approach involves using genes to treat or prevent diseases, and it is being explored as a potential treatment for some peroxisomal disorders.
8. Prenatal testing: In some cases, prenatal testing may be available to identify genetic mutations that cause peroxisomal disorders before birth.
9. Counseling and support: It is important for patients with peroxisomal disorders and their families to receive emotional support and counseling to help them cope with the challenges of these conditions.
Overall, the treatment of peroxisomal disorders is complex and may involve a combination of different interventions, depending on the specific diagnosis and needs of each patient. In many cases, early detection and intervention can help to improve outcomes and reduce the risk of complications.
Symptoms of Refsum disease typically begin in early adulthood and may include:
* Muscle weakness and wasting
* Loss of coordination and balance
* Vision problems
* Hearing loss
* Cognitive decline and dementia
* Memory loss
* Speech difficulties
Refsum disease is caused by mutations in the PAH gene, which codes for the enzyme phytanic acid hydrolase. This enzyme plays a crucial role in breaking down phytanic acid, a fatty substance found in certain foods. Without this enzyme, phytanic acid accumulates in the body and is thought to contribute to the degeneration of nerve cells in the brain and other parts of the nervous system.
There is no cure for Refsum disease, but treatment may include:
* Dietary restrictions to limit intake of phytanic acid
* Vitamin supplements to support the body's natural detoxification processes
* Physical therapy to maintain muscle strength and mobility
* Speech and language therapy to improve communication skills
* Medications to manage seizures and other symptoms
Prognosis for Refsum disease is generally poor, with most individuals experiencing significant neurological decline over time. However, the rate of progression can vary widely, and some individuals may experience a more gradual decline over many years. With appropriate treatment and supportive care, some individuals with Refsum disease may be able to maintain their quality of life for several years or even decades.
The disorder is caused by mutations in the PEX1, PEX2, or PEX3 genes, which are involved in the peroxisomal biogenesis pathway. The defective peroxisomes are unable to function properly, leading to a wide range of symptoms and complications.
Zellweger syndrome typically affects infants and children, and the symptoms may include:
1. Developmental delays and intellectual disability
2. Hypotonia (low muscle tone)
3. Ataxia (poor coordination)
4. Cerebellar atrophy (shrinkage of the cerebellum)
6. Hydrocephalus (fluid accumulation in the brain)
7. Hepatic dysfunction (liver problems)
8. Nephropathy (kidney damage)
9. Retinal degeneration (vision loss)
10. Skeletal abnormalities, such as short stature and joint deformities.
There is no cure for Zellweger syndrome, and treatment is focused on managing the symptoms and preventing complications. In some cases, liver transplantation may be necessary. The prognosis for the disorder is generally poor, and many individuals with Zellweger syndrome do not survive beyond early childhood.
Zellweger syndrome is a rare disorder, and its prevalence is unknown. However, it is estimated to affect approximately 1 in 50,000 newborns worldwide. The disorder is often diagnosed during infancy or early childhood, based on a combination of clinical features and laboratory tests, such as genetic analysis.
Overall, Zellweger syndrome is a severe and debilitating disorder that affects multiple systems in the body. While there is no cure for the disorder, early diagnosis and appropriate management can help improve the quality of life for affected individuals.
The term "Osteochondrodysplasias" comes from the Greek words "osteo," meaning bone; "chondro," meaning cartilage; and "dysplasia," meaning abnormal growth or development. These disorders can affect people of all ages, but are most commonly seen in children and young adults.
There are many different types of OCDs, each with its own unique set of symptoms and characteristics. Some of the most common types include:
* Brittle bone disease (osteogenesis imperfecta): This is a condition in which the bones are prone to fractures, often without any obvious cause.
* Camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome: This is a rare condition that affects the hands, feet, and joints, causing stiffness, pain, and limited mobility.
* Diaphyseal dysplasia: This is a condition in which the bones in the arms and legs are abnormally short and brittle.
* Epiphyseal dysplasia: This is a condition in which the growth plates at the ends of the long bones are abnormal, leading to short stature and other skeletal deformities.
There is no cure for OCDs, but treatment options are available to manage symptoms and improve quality of life. These may include physical therapy, braces or orthotics, medications to manage pain and inflammation, and in some cases, surgery. Early diagnosis and intervention are important to help manage the condition and prevent complications.
The condition is caused by mutations in genes that are involved in the formation of bones. It is usually inherited in an autosomal dominant pattern, meaning that a single copy of the mutated gene is enough to cause the condition. However, some cases may be caused by spontaneous mutations and not inherited from either parent.
The symptoms of multiple hereditary exostoses can vary in severity and may include:
* Painful bone growths
* Limited mobility
* Deformity of affected limbs
* Short stature
* Difficulty walking or standing
There is no cure for multiple hereditary exostoses, but treatment options are available to manage the symptoms. These may include:
* Pain medication
* Physical therapy
* Orthotics or assistive devices
* Surgery to remove or reshape the bone growths
If you suspect that you or your child may have multiple hereditary exostoses, it is important to consult with a healthcare professional for proper diagnosis and treatment. A geneticist or orthopedic specialist can perform tests such as imaging studies (X-rays, CT scans) and blood tests to confirm the diagnosis and determine the severity of the condition.
1. Medical Definition: In medicine, dwarfism is defined as a condition where an individual's height is significantly below the average range for their age and gender. The term "dwarfism" is often used interchangeably with "growth hormone deficiency," but the two conditions are not the same. Growth hormone deficiency is a specific cause of dwarfism, but there can be other causes as well, such as genetic mutations or chromosomal abnormalities.
2. Genetic Definition: From a genetic perspective, dwarfism can be defined as a condition caused by a genetic mutation or variation that results in short stature. There are many different genetic causes of dwarfism, including those caused by mutations in the growth hormone receptor gene, the insulin-like growth factor 1 (IGF1) gene, and other genes involved in growth and development.
3. Anthropological Definition: In anthropology, dwarfism is defined as a physical characteristic that is considered to be outside the normal range for a particular population or culture. This can include individuals who are short-statured due to various causes, including genetics, nutrition, or environmental factors.
4. Social Definition: From a social perspective, dwarfism can be defined as a condition that is perceived to be different or abnormal by society. Individuals with dwarfism may face social stigma, discrimination, and other forms of prejudice due to their physical appearance.
5. Legal Definition: In some jurisdictions, dwarfism may be defined as a disability or a medical condition that is protected by anti-discrimination laws. This can provide legal protections for individuals with dwarfism and ensure that they have access to the same rights and opportunities as others.
In summary, the definition of dwarfism can vary depending on the context in which it is used, and it may be defined differently by different disciplines and communities. It is important to recognize and respect the diversity of individuals with dwarfism and to provide support and accommodations as needed to ensure their well-being and inclusion in society.
1. Osteogenesis imperfecta (OI): This is a genetic disorder that affects the formation of collagen, which is essential for bone strength and density. People with OI have brittle bones that are prone to fractures, often from minimal trauma.
2. Achondroplasia: This is the most common form of short-limbed dwarfism, caused by a genetic mutation that affects the development of cartilage and bone. People with achondroplasia have short stature, short limbs, and characteristic facial features.
3. Cleidocranial dysostosis: This is a rare genetic disorder that affects the development of the skull and collarbones. People with cleidocranial dysostosis may have misshapen or absent collarbones, as well as other skeletal abnormalities.
4. Fibrous dysplasia: This is a benign bone tumor that can affect any bone in the body. It is caused by a genetic mutation that causes an overgrowth of fibrous tissue in the bone, leading to deformity and weakness.
5. Multiple epiphyseal dysplasia (MED): This is a group of disorders that affect the growth plates at the ends of long bones, leading to irregular bone growth and deformity. MED can be caused by genetic mutations or environmental factors.
These are just a few examples of developmental bone diseases. There are many other conditions that can affect the formation and development of bones during fetal life or childhood, each with its own unique set of symptoms and characteristics.
Rhizomelic chondrodysplasia punctata
List of OMIM disorder codes
List of skin conditions
List of MeSH codes (C05)
Alkylglycerone phosphate synthase
List of MeSH codes (C18)
List of MeSH codes (C16)
Rhizomelic chondrodysplasia punctata: MedlinePlus Genetics
Index by author - March 01, 2002, 23 (3) | American Journal of Neuroradiology
SMART: WD40 domain annotation
Appendix F Unrelated Operating Room Procedures (MS-DRGs 981-989
Let's Talk Genetics: What is a Genetic Carrier?
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Achondroplasia Imaging: Practice Essentials, Radiography, Computed Tomography
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Form of chondrodysplasia punctata3
- Infant with rhizomelic form of chondrodysplasia punctata (left). (medscape.com)
- An autosomal recessive form of CHONDRODYSPLASIA PUNCTATA characterized by defective plasmalogen biosynthesis and impaired peroxisomes. (nih.gov)
- The metabolic defects associated with the impaired peroxisomes are present only in the rhizomelic form of chondrodysplasia punctata. (nih.gov)
- 1. Functional characterization of novel mutations in GNPAT and AGPS, causing rhizomelic chondrodysplasia punctata (RCDP) types 2 and 3. (nih.gov)
- 18. Variant rhizomelic chondrodysplasia punctata (RCDP) with normal plasma phytanic acid: clinico-biochemical delineation of a subtype and complementation studies. (nih.gov)
- Researchers have described three types of rhizomelic chondrodysplasia punctata: type 1 (RCDP1), type 2 (RCDP2), and type 3 (RCDP3). (medlineplus.gov)
- Rhizomelic chondrodysplasia punctata type 1 (RCDP1), a peroxisome biogenesis disorder (PBD) has a classic (severe) form and a nonclassic (mild) form. (nih.gov)
- Classic (severe) RCDP1 is characterized by proximal shortening of the humerus (rhizomelia) and to a lesser degree the femur, punctate calcifications in cartilage with epiphyseal and metaphyseal abnormalities (chondrodysplasia punctata, or CDP), coronal clefts of the vertebral bodies, and cataracts that are usually present at birth or appear in the first few months of life. (nih.gov)
- Nonclassic (mild) RCDP1 is characterized by congenital or childhood cataracts, CDP or infrequently, chondrodysplasia manifesting only as mild epiphyseal changes, variable rhizomelia, and milder intellectual disability and growth restriction than classic RCDP1. (nih.gov)
Shortening of the limbs2
- Note relatively normal-sized trunk, a large head, rhizomelic shortening of the limbs, lumbar lordosis, and trident hands. (medscape.com)
- 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. (nih.gov)
- 8. Rhizomelic chondrodysplasia punctata is caused by deficiency of human PEX7, a homologue of the yeast PTS2 receptor. (nih.gov)
- Additional studies of fibroblasts from patients with X-linked adrenoleukodystrophy, straight-chain acyl-CoA oxidase (SCOX) deficiency, D-bifunctional protein (DBP) deficiency, and rhizomelic chondrodysplasia punctata type 1, and of fibroblasts from L-bifunctional protein and sterol carrier protein X (SCPx) knockout mice, show that the main enzymes involved in β-oxidation of C24:6n-3 to C22:6n-3 are SCOX, DBP, and both 3-ketoacyl-CoA thiolase and SCPx. (northwestern.edu)
- 9. Expanding the genotypic and phenotypic landscapes of rhizomelic chondrodysplasia punctata type 3 (RCDP3) with two novel families, and a review of the literature. (nih.gov)
- Rhizomelic Chondrodysplasia Punctata Type 1. (medlineplus.gov)
- 3. A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform. (nih.gov)
- 7. Rhizomelic chrondrodysplasia punctata type 2 resulting from paternal isodisomy of chromosome 1. (nih.gov)
- 11. Identification of a novel missense mutation of PEX7 gene in an Iranian patient with rhizomelic chondrodysplasia punctata type 1. (nih.gov)
- 17. C86Y: as a destructive homozygous mutation deteriorating Pex7p function causing rhizomelic chondrodysplasia punctata type I. (nih.gov)
- Rhizomelic chondrodysplasia punctata results from mutations in one of three genes. (medlineplus.gov)
- 2. Mild reduction of plasmalogens causes rhizomelic chondrodysplasia punctata: functional characterization of a novel mutation. (nih.gov)
- Because of their severe health problems, most people with rhizomelic chondrodysplasia punctata survive only into childhood. (medlineplus.gov)
- Rhizomelic chondrodysplasia punctata is characterized by shortening of the bones in the upper arms and thighs (rhizomelia). (medlineplus.gov)
- 15. Rhizomelic chondrodysplasia punctata is a peroxisomal protein targeting disease caused by a non-functional PTS2 receptor. (nih.gov)
- Los defectos metabólicos asociados con la alteración de los peroxisomas sólo están presentes en la forma rizomélica de la condrodisplasia punctata (Scriver et al, Metabolic Basis of Inherited Disease, 6th ed, p 1497). (bvsalud.org)
- People with rhizomelic chondrodysplasia punctata often develop joint deformities (contractures) that make the joints stiff and painful. (medlineplus.gov)
- The genes associated with rhizomelic chondrodysplasia punctata are involved in the formation and function of structures called peroxisomes . (medlineplus.gov)
Symptoms of rhizomelic2
- Image shows rhizomelic shortening of the bilateral femurs with metaphyseal flaring. (medscape.com)
- Image shows rhizomelic shortening of the humerus with posterior bowing and an incomplete glenoid fossa. (medscape.com)
- Affected individuals also have a specific bone abnormality called chondrodysplasia punctata, which affects the growth of the long bones and can be seen on x-rays. (medlineplus.gov)