Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome

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, develomental delays, and craniofacial anomalies.