Rhizomelic chondrodysplasia punctata, type 3

Common Name(s)

Rhizomelic chondrodysplasia punctata, type 3

Rhizomelic chondrodysplasia punctata (RCDP) is a peroxisomal disorder characterized by disproportionately short stature primarily affecting the proximal parts of the extremities, a typical facial appearance including a broad nasal bridge, epicanthus, high-arched palate, dysplastic external ears, and micrognathia, congenital contractures, characteristic ocular involvement, dwarfism, and severe mental retardation with spasticity. Biochemically, plasmalogen synthesis and phytanic acid alpha-oxidation are defective. Most patients die in the first decade of life. RCDP1 is the most frequent form of RCDP (summary by {8:Wanders and Waterham, 2005}). Whereas RCDP1 is a peroxisomal biogenesis disorder (PBD), RCDP3 is classified as a single peroxisome enzyme deficiency ({9:Waterham and Ebberink, 2012}). For a discussion of genetic heterogeneity of rhizomelic chondrodysplasia punctata, see {215100}.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Rhizomelic chondrodysplasia punctata, type 3" for support, advocacy or research.

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Scientific Literature

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Symptoms, Diagnosis, and Treatment

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