Night blindness-skeletal anomalies-dysmorphism syndrome
ORPHA:1390· ICD-10 Q87.8
Definition
A rare, genetic, multiple congenital anomalies/dysmorphyc syndrome characterized by slowly progressive night blindness, skeletal abnormalities (sloping shoulders, joint hyperextensibility, minor radiological anomalies) and characteristic facial features (periorbital anomalies, malar flatness, retrognathia). Additional manifestations include myopia and extinguished electroretinograms. There have been no further descriptions in the literature since 1979.
- Prevalence
- <1 / 1 000 000
- Age of onset
- Childhood