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Night blindness-skeletal anomalies-dysmorphism syndrome

^ http://www.orpha.net/ORDO/Orphanet_1390


This syndrome is characterized by night blindness, skeletal abnormalities (sloping shoulders, joint hyperextensibility, minor radiological anomalies) and characteristic facies (periorbital anomalies, malar flatness, retrognathia).

Synonyms: Hunter-Thompson-Reed syndrome