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 developmental delays and craniofacial anomalies.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
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Brachydactyly-short stature-retinitis pigmentosa syndrome?
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