Rhizomelic chondrodysplasia punctata type 2

Common Name(s)

Rhizomelic chondrodysplasia punctata type 2

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 ({215100}) is the most frequent form of RCDP (summary by {12:Wanders and Waterham, 2005}). Whereas RCDP1 is a peroxisomal biogenesis disorder (PBD), RCDP2 is classified as a single peroxisome enzyme deficiency ({13: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 2" for support, advocacy or research.

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Scientific Literature

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The terms "Rhizomelic chondrodysplasia punctata type 2" returned 1 free, full-text research articles on human participants. First 3 results:

Acyl-CoA:dihydroxyacetonephosphate acyltransferase: cloning of the human cDNA and resolution of the molecular basis in rhizomelic chondrodysplasia punctata type 2.
 

Author(s): R Ofman, E H Hettema, E M Hogenhout, U Caruso, A O Muijsers, R J Wanders

Journal: Hum. Mol. Genet.. 1998 May;7(5):847-53.

 

Rhizomelic chondrodysplasia punctata (RCDP) is a genetic disorder which is clinically characterized by rhizomelic shortening of the upper extremities, typical dysmorphic facial appearance, congenital contractures and severe growth and mental retardation. Patients with RCDP can be ...

Last Updated: 26 Aug 1998

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