Chondrodysplasia Punctata
Chondrodysplasia Punctata, Rhizomelic
Plasmalogens
Phytanic Acid
Peroxisomal Disorders
Refsum Disease
Arylsulfatases
Zellweger Syndrome
Acetyl-CoA C-Acetyltransferase
Microbodies
Acyltransferases
Peroxisomes
Exostoses, Multiple Hereditary
Dwarfism
Cockroaches
The Conradi-Hunermann-Happle syndrome (CDPX2) and emopamil binding protein: novel mutations, and somatic and gonadal mosaicism. (1/46)
The Conradi-Hunermann-Happle (CHH) syndrome (X-chromosomal dominant chondrodysplasia punctata type II; MIM 302960) is an X-linked dominant disorder that is characterized by ichthyosis, chondrodysplasia punctata, cataracts and short stature. The disease occurs almost exclusively in females and shows increased disease expression in successive generations (anticipation). Recently, causative mutations in the emopamil binding protein (EBP) have been identified. To better appreciate the genetics of this syndrome we analyzed the EBP gene in seven independent families using PCR, conformation-sensitive gel electrophoresis, direct sequencing and restriction enzyme analysis. We found five novel mutations: three nonsense mutations in exon 2 and exon 3 and two frameshift mutations, one deletion in exon 4 and an insertion in exon 5. In two families, known mutations affecting exon 2 were identified. Surprisingly, we failed to detect the mutation in a grandmother exhibiting minor disease symptoms such as sectorial cataract and attribute this to gonadal and somatic mosaicism. Gonadal mosaicism appeared also to be involved in the case of healthy parents having two affected girls, one of whom died due to the disease. We conclude that gonadal mosaicism has to be considered when dealing with seemingly sporadic cases. (+info)X-Linked dominant disorders of cholesterol biosynthesis in man and mouse. (2/46)
The X-linked dominant male-lethal mouse mutations tattered and bare patches are homologous to human X-linked dominant chondrodysplasia punctata and CHILD syndrome, rare human skeletal dysplasias. These disorders also affect the skin and can cause cataracts and microphthalmia in surviving, affected heterozygous females. They have recently been shown to result from mutations in genes encoding enzymes involved in sequential steps in the conversion of lanosterol to cholesterol. This review will summarize clinical features of the disorders and describe recent biochemical and molecular investigations that have resulted in the elucidation of the involved genes and their metabolic pathway. Finally, speculations about possible mechanisms of pathogenesis will be provided. (+info)A case of chondrodysplasia punctata with features of osteogenesis imperfecta type II. (3/46)
The osteogenesis imperfecta syndromes constitute a group of heterogeneous, heritable skeletal dysplasias. Of the 4 types, type II is the most severe, with an incidence of 1 per 55,000. It is characterized by malformed bones secondary to abnormal collagen type I synthesis. Affected fetuses are divided into 3 groups: A, B, and C. All groups have long bones described as "wrinkled" or "crumpled" secondary to repeated fractures. Many bones also show evidence of demineralization, which is especially evident in the bones of the face and calvaria. In groups A and C, the chest is generally small, with thickened and shortened ribs, and each rib has characteristic "beading" patterns secondary to repeated fracturing. Sonography has traditionally been successful in the diagnosis of osteogenesis imperfecta at an early gestational age. Chondrodysplasia punctata describes a heterogeneous group of skeletal disorders characterized by abnormal mineralization of bones during gestation. There are many different causes of it, but some of the specific subtypes include rhizomelic, X-linked dominant (also known as Conradi-Hunermann syndrome), X-linked recessive, and tibia-metacarpal. We report a case of severe X-linked dominant chondrodysplasia punctata, which sonographically had common features with osteogenesis imperfecta type II. (+info)Gas chromatography-mass spectrometry and molecular genetic studies in families with the Conradi-Hunermann-Happle syndrome. (4/46)
The Conradi-Hunermann-Happle syndrome is an X-linked dominant disease that is due to mutations in the gene for emopamil binding protein. Emopamil binding protein is a Delta8-Delta7 sterol isomerase and plays a pivotal role in the final steps of cholesterol biosynthesis. We wanted to know to what extent this X-linked dominant enzyme defect has functional consequences at the biochemical level and whether it is possible to predict the clinical phenotype from serum sterol measurements. Therefore we performed sterol biochemical studies in 11 Conradi-Hunermann-Happle syndrome families and compared the results obtained to the clinical and molecular genetic findings. To assess disease severity a score considering bone and skin involvement and further features was used. For evaluation of the functional consequences we studied serum samples using gas chromatography-mass spectrometry analysis. For mutation screening we analyzed the emopamil binding protein gene using polymerase chain reaction, heteroduplex analysis of all exons, direct sequencing, and restriction enzyme analysis. Mutations in the emopamil binding protein gene were found in all 11 families including seven novel mutations affecting exons 2, 4, and 5. Gas chromatography-mass spectrometry analysis revealed markedly elevated levels of 8-dehydrocholesterol and of cholest-8(9)-en-3beta-ol and helped to identify somatic mosaicism in a clinically unaffected man. The extent of the metabolic alterations in the serum, however, do not allow prediction of the clinical phenotype, nor the genotype. This lack of correlation may be due to differences in X-inactivation between different tissues of the same patient and/or loss of the mutant clone by outgrowth of proficient clones after some time. (+info)Fetal musculoskeletal malformations with a poor outcome: ultrasonographic, pathologic, and radiographic findings. (5/46)
The early and accurate antenatal diagnosis of fetal musculoskeletal malfomations with a poor outcome has important implications for the management of a pregnancy. Careful ultrasonographic examination of a fetus helps detect such anomalies, and a number of characteristic features may suggest possible differential diagnoses. During the last five years, we have encountered 39 cases of such anomalies, and the typical prenatal ultrasonographic and pathologic findings of a number of those are described in this article. (+info)Vitreoretinopathy with phalangeal epiphyseal dysplasia, a type II collagenopathy resulting from a novel mutation in the C-propeptide region of the molecule. (6/46)
A large family with dominantly inherited rhegmatogenous retinal detachment, premature arthropathy, and development of phalangeal epiphyseal dysplasia, resulting in brachydactyly was linked to COL2A1, the gene encoding proalpha1(II) collagen. Mutational analysis of the gene by exon sequencing identified a novel mutation in the C-propeptide region of the molecule. The glycine to aspartic acid change occurred in a region that is highly conserved in all fibrillar collagen molecules. The resulting phenotype does not fit easily into pre-existing subgroups of the type II collagenopathies, which includes spondyloepiphyseal dysplasia, and the Kniest, Strudwick, and Stickler dysplasias. (+info)Disorders of cholesterol biosynthesis: prototypic metabolic malformation syndromes. (7/46)
Since 1998, five disorders involving enzyme defects in post-squalene cholesterol biosynthesis have been identified-desmosterolosis, X-linked dominant chondrodysplasia punctata, CHILD syndrome, lathosterolosis, and hydrops-ectopic calcification-moth-eaten skeletal dysplasia. They join the most common cholesterol biosynthetic disorder, Smith-Lemli-Opitz syndrome, whose underlying defect was identified in 1993. All are associated with major developmental malformations that are unusual for metabolic disorders. The existence of mouse models for five of these disorders is beginning to enable more detailed developmental and in vitro studies examining the mechanisms involved in disease pathogenesis. In this review, an overview of the cholesterol biosynthetic pathway will be presented. Clinical features of the human disorders and mouse models of post-squalene cholesterol biosynthesis will then be discussed. (+info)Subcellular localisation and processing of non-specific lipid transfer protein are not aberrant in Rhizomelic Chondrodysplasia Punctata fibroblasts. (8/46)
The import into peroxisomes and maturation of peroxisomal 3-oxoacyl-CoA thiolase are impaired in patients with the Rhizomelic form of Chondrodysplasia Punctata (RCDP). Here we show by means of immunoblotting and subcellular fractionation that non-specific lipid transfer protein (nsLTP), another peroxisomal protein synthesised as a larger precursor, is localised in peroxisomes and is present as the mature protein in RCDP fibroblasts. Thus the component of the import machinery defective in RCDP is not required for the import of nsLTP into peroxisomes. (+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.
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.
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
* Seizures
* 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)
5. Seizures
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 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.
Chondrodysplasia punctata
Rhizomelic chondrodysplasia punctata
X-linked recessive chondrodysplasia punctata
Emopamil binding protein
Plasmalogen
Stippled epiphyses
List of OMIM disorder codes
Hypercoagulability in pregnancy
Rhizomelia
Conradi-Hünermann syndrome
Glyceronephosphate O-acyltransferase
Congenital vertebral anomaly
Arylsulfatase E
Peroxisomal disorder
Keutel syndrome
Peroxin-7
Refsum disease
Steroid sulfatase
List of diseases (C)
List of skin conditions
List of MeSH codes (C05)
Alkylglycerone phosphate synthase
ADCY2
List of MeSH codes (C18)
List of MeSH codes (C16)
Ocular albinism late onset sensorineural deafness
Zellweger syndrome
List of diseases (P)
Rhizomelic chondrodysplasia punctata: MedlinePlus Genetics
MedlinePlus: Genetic Conditions
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Rhizomelic14
- Rhizomelic chondrodysplasia punctata is a condition that impairs the normal development of many parts of the body. (medlineplus.gov)
- Rhizomelic chondrodysplasia punctata is characterized by shortening of the bones in the upper arms and thighs (rhizomelia). (medlineplus.gov)
- People with rhizomelic chondrodysplasia punctata often develop joint deformities (contractures) that make the joints stiff and painful. (medlineplus.gov)
- Distinctive facial features are also seen with rhizomelic chondrodysplasia punctata. (medlineplus.gov)
- Rhizomelic chondrodysplasia punctata is associated with significantly delayed development and severe intellectual disability. (medlineplus.gov)
- Because of their severe health problems, most people with rhizomelic chondrodysplasia punctata survive only into childhood. (medlineplus.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 affects fewer than 1 in 100,000 people worldwide. (medlineplus.gov)
- Rhizomelic chondrodysplasia punctata results from mutations in one of three genes. (medlineplus.gov)
- The genes associated with rhizomelic chondrodysplasia punctata are involved in the formation and function of structures called peroxisomes . (medlineplus.gov)
- Researchers are working to determine how problems with plasmalogen synthesis lead to the specific signs and symptoms of rhizomelic chondrodysplasia punctata. (medlineplus.gov)
- The group includes a severe autosomal recessive form ( CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC ), an autosomal dominant form (Conradi-Hunermann syndrome), and a milder X-linked form. (nih.gov)
- Rhizomelic chondrodysplasia punctata is a uncommon, usually deadly illness that shares many scientific dysmorphologic options with the uncommon usually non-lethal chondrodysplasia punctata as a consequence of maternal autoimmune illness. (molvisindex.org)
- 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)
Dominant Chondrodysplasia Punctata1
- Other human malformation syndromes caused by inborn errors of cholesterol synthesis include Lathosterolosis, Desmosterolosis, X-linked dominant chondrodysplasia punctata type 2 (CDPX2), and Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects (CHILD syndrome). (nih.gov)
Maternal1
- Single sperm typing detects very low frequency paternal gonadal mosaicism in a case of recurrent chondrodysplasia punctata misattributed to a maternal origin. (bvsalud.org)
Syndrome1
- Cholesterol is associated with abnormalities such as Trypanosomiasis, Chagas Disease, Cleft Palate, Chondrodysplasia punctata 2, X-linked dominant and Child syndrome. (cmdm.tw)
Abnormalities1
- in pregnancy, recommended that only used during the 13th to 36th week because of fetal abnormalities associated with it's use during the first trimester - chondrodysplasia punctata - and after the 36th week - fetal intracerebral bleeding. (gpnotebook.com)
Rhizomelic Chondrodyspla3
- 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. (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)
Symptoms of rhizomelic2
- Researchers are working to determine how problems with plasmalogen synthesis lead to the specific signs and symptoms of rhizomelic chondrodysplasia punctata. (medlineplus.gov)
- When Do Symptoms of Rhizomelic chondrodysplasia punctata Begin? (nih.gov)
Dominant chondrodysplasia punctata1
- Other human malformation syndromes caused by inborn errors of cholesterol synthesis include Lathosterolosis, Desmosterolosis, X-linked dominant chondrodysplasia punctata type 2 (CDPX2), and Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects (CHILD syndrome). (nih.gov)
Autosomal recessive1
- The group includes a severe autosomal recessive form (CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC), an autosomal dominant form (Conradi-Hunermann syndrome), and a milder X-linked form. (bvsalud.org)
CDPX21
- The findings in X-linked chondrodysplasia punctata 2 (CDPX2) range from fetal demise with multiple malformations and severe growth retardation to much milder manifestations, including females with no recognizable physical abnormalities. (nih.gov)
Calcifications1
- 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)
Peroxisomal1
- Therefore, peroxisomal disorders generally manifest with elevated VLCFA levels (except rhizomelic chondrodysplasia and Refsum disease). (msdmanuals.com)
Clinical1
- Irving MD, Chitty LS, Mansour S, Hall CM. Chondrodysplasia punctata: a clinical diagnostic and radiological review. (medlineplus.gov)
Distinctive1
- Distinctive facial features are also seen with rhizomelic chondrodysplasia punctata. (medlineplus.gov)
Long bones1
- 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)
Severe2
- Rhizomelic chondrodysplasia punctata is associated with significantly delayed development and severe intellectual disability. (medlineplus.gov)
- Because of their severe health problems, most people with rhizomelic chondrodysplasia punctata survive only into childhood. (medlineplus.gov)
Form1
- Infant with rhizomelic form of chondrodysplasia punctata (left). (medscape.com)
Development1
- Rhizomelic chondrodysplasia punctata is a condition that impairs the normal development of many parts of the body. (medlineplus.gov)
