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GTR Home > Conditions/Phenotypes > Rhizomelic chondrodysplasia punctata type 2

Rhizomelic chondrodysplasia punctata type 2

Synonyms
Chondrodysplasia punctata, rhizomelic, due to dihydroxyacetonephosphate acyltransferase deficiency; Dihydroxyacetonephosphate acyltransferase deficiency; Peroxisomal dihydroxyacetonephosphate acyltransferase deficiency; glyceronephosphate O-acyltransferase (GNPAT) deficiency

Summary

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 Wanders and Waterham, 2005). Whereas RCDP1 is a peroxisomal biogenesis disorder (PBD), RCDP2 is classified as a single peroxisome enzyme deficiency (Waterham and Ebberink, 2012). For a discussion of genetic heterogeneity of rhizomelic chondrodysplasia punctata, see 215100. [from OMIM]

Available tests

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  • Also known as: DAP-AT, DAPAT, DHAPAT, RCDP2, GNPAT
    Summary: glyceronephosphate O-acyltransferase

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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