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GTR Home > Conditions/Phenotypes > Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome

Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome

Synonyms
Retinitis pigmentosa with or without skeletal anomalies

Summary

Retinitis pigmentosa with or without skeletal anomalies (RPSKA) is characterized by retinal degeneration, brachydactyly, craniofacial abnormalities, short stature, and neurologic defects. Night blindness occurs around 10 years of age, followed by restriction of visual fields. Brachydactyly affects primarily the distal phalanges. Craniofacial abnormalities include frontal bossing, downslanting palpebral fissures, large columella, hypoplastic nares, micrognathia, and large low-set ears (summary by Xu et al., 2017). [from OMIM]

Available tests

10 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (10 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: NY-CO-10, RPSKA, SDCCAG-10, SDCCAG10, CWC27
    Summary: CWC27 spliceosome associated cyclophilin

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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