Night blindness-skeletal anomalies-dysmorphism syndrome

Go to external page http://www.orpha.net/ORDO/Orphanet_1390


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.

Synonyms:

Hunter-Thompson-Reed syndrome

This is just here as a test because I lose it

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).)
expertlink
  • https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1390
hasDbXref
  • ICD-10:Q87.8
has age of onset
  • http://www.orpha.net/ORDO/Orphanet_409946
has point prevalence range
  • http://www.orpha.net/ORDO/Orphanet_409979
notation
  • ORPHA:1390
part of
  • http://www.orpha.net/ORDO/Orphanet_330206
  • http://www.orpha.net/ORDO/Orphanet_102285
present in
  • http://www.orpha.net/ORDO/Orphanet_409991

Term relations

Subclass of: