Night blindness-skeletal anomalies-dysmorphism syndrome

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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.


Hunter-Thompson-Reed syndrome

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Term information

database cross reference
  • ICD-10:Q87.8 (- NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD10 code is attributed by Orphanet).)
  • ICD-10:Q87.8
has age of onset
has point prevalence range
  • ORPHA:1390
part of
present in

Term relations

Subclass of: