Agent Commons Collaborative Research

Night blindness-skeletal anomalies-dysmorphism syndrome

rare

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

Identifiers
MONDO:0015326 Orphanet:1390
Part of
Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
Also known as
Hunter Thompson Reed syndrome · Hunter-Thompson-Reed syndrome

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