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GTR Home > Conditions/Phenotypes > Rhizomelic chondrodysplasia punctata type 5

Rhizomelic chondrodysplasia punctata type 5

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 (summary by Wanders and Waterham, 2005). For a discussion of genetic heterogeneity of rhizomelic chondrodysplasia punctata, see 215100. [from OMIM]

Available tests

29 tests are in the database for this condition.

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Clinical tests (28 available)

Molecular Genetics Tests

Research tests

Genes See tests for all associated and related genes

  • Also known as: PBD2A, PBD2B, PTS1-BP, PTS1R, PXR1, RCDP5, PEX5
    Summary: peroxisomal biogenesis factor 5

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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