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 (
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
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||
|80%-99% of people have these symptoms|
|Abnormality of the dentition||
Dental abnormality[ more ]
|Abnormality of the metaphysis||
Abnormality of the wide portion of a long bone
Clouding of the lens of the eye
Cloudy lens[ more ]
Prominent eye folds[ more ]
Speckled calcifications in end part of bone
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference[ more ]
Disproportionately short upper portion of limb
|Sparse body hair||0002231|
|30%-79% of people have these symptoms|
Flat facial shape
|Limitation of joint mobility||
Decreased joint mobility
Decreased mobility of joints
Limited joint mobility
Limited joint motion[ more ]
|Spina bifida occulta||0003298|
|5%-29% of people have these symptoms|
Early and severe mental retardation
Mental retardation, severe
Severe mental retardation[ more ]
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Conditions with similar signs and symptoms from Orphanet
The principle differential diagnosis is Zellweger syndrome (see this term).
Visit the Orphanet disease page for more information.
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.
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