Brachydactyly-short stature-retinitis pigmentosa syndrome

Definition

Brachydactyly-short stature-retinitis pigmentosa syndrome is a rare, genetic, congenital limb malformation syndrome characterized by mild to severe short stature, brachydactyly, and retinal degeneration (usually retinitis pigmentosa), associated with variable intellectual disability, developmental delays, and craniofacial anomalies.

Disease data

Classification

Malformation syndrome

ORPHA code

166035

OMIM code

250410

ICD10 code

Q87.8

ICD11 code

*Soruce