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Definition

An autosomal recessive disease characterized by retinal degeneration, brachydactyly, short stature, craniofacial dysmorphism, and neurologic defects. Retinal defects are consistent with retinitis pigmentosa in most patients. Neurologic manifestations include mild-to-moderate intellectual disability and psychomotor retardation.

Acronym

RPSKA

Synonyms

Metaphyseal chondrodysplasia with retinitis pigmentosa

Keywords

Dwarfism
Retinitis pigmentosa
Mental retardation