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Disease Profile

Rhizomelic chondrodysplasia punctata

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

#N/A

ICD-10

#N/A

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

RCDP; Rhizomelic chondrodysplasia punctata

Summary

Rhizomelic chondrodysplasia punctata (RCDP) is a type of peroxisomal disorder which impairs the normal development of many parts of the body. It is characterized by shortening of the bones in the upper arms and thighs (rhizomelia). People with RCDP have very poor growth and often develop joint deformities (contractures) that make the joints stiff and painful. Other major features include distinctive facial features, intellectual disability, clouding of the lenses of the eyes (cataracts), heart defects, and respiratory problems.[1][2] There are 5 types of RCDP, classified according to the associated gene mutations:[2]

RCDP1 with PEX7 gene
RCDP2 with GNPAT gene
RCDP3 with AGPS gene
RCDP4 (peroxisomal fatty acyl-CoA reductase 1 disorder) with FAR1 gene
RCDP5 with PEX5 gene

All these genes are involved in the formation and function of sac-like cell structures called peroxisomes that contain enzymes needed to break down many substances, including fatty acids known as plasmalogens.[1] Deficiency of plasmalogen affects bone growth.[2] Inheritance is autosomal recessiveThere is no cure for RCDP. Treatment is symptomatic and may include physiotherapy and orthopedic procedures, eye surgery, and nutritional plans. For example, RCDP1 patients may need diet restriction of phytanic acid.[2][3]

Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Abnormality of the dentition
Abnormal dentition
Abnormal teeth
Dental abnormality

[ more ]

0000164
Abnormality of the metaphysis
Abnormality of the wide portion of a long bone
0000944
Cataract
Clouding of the lens of the eye
Cloudy lens

[ more ]

0000518
Dry skin
0000958
Epicanthus
Eye folds
Prominent eye folds

[ more ]

0000286
Epiphyseal stippling
Speckled calcifications in end part of bone
0010655
Ichthyosis
0008064
Microcephaly
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference

[ more ]

0000252
Rhizomelia
Disproportionately short upper portion of limb
0008905
Scoliosis
0002650
Sparse body hair
0002231
30%-79% of people have these symptoms
Flat face
Flat facial shape
0012368
Limitation of joint mobility
Decreased joint mobility
Decreased mobility of joints
Limited joint mobility
Limited joint motion

[ more ]

0001376
Spina bifida occulta
0003298
5%-29% of people have these symptoms
Alopecia
Hair loss
0001596
Intellectual disability, severe
Early and severe mental retardation
Mental retardation, severe
Severe mental retardation

[ more ]

0010864

Learn more

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

  • Online Mendelian Inheritance in Man (OMIM) lists the subtypes and associated genes for Rhizomelic chondrodysplasia punctata in a table called Phenotypic Series. Each entry in OMIM includes a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.

References

  1. Rhizomelic chondrodysplasia punctata. Genetics Home Reference. 2010; https://ghr.nlm.nih.gov/condition/rhizomelic-chondrodysplasia-punctata#inheritance.
  2. Duker AL, Niiler T, Eldridge G, Brereton NH, Braverman NE & Bober MB. Growth charts for individuals with rhizomelic chondrodysplasia punctata. Am J Med Genet Part A. 2017; 173A:108–113. https://www.ncbi.nlm.nih.gov/pubmed/27616591.
  3. Braverman NE, Moser AB & Steinberg SJ. Rhizomelic Chondrodysplasia Punctata Type 1:. GeneReviews. 2012; https://www.ncbi.nlm.nih.gov/books/NBK1270/.