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Night blindness-skeletal anomalies-dysmorphism syndrome

Disease 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.

ORPHA:1390

Classification level: Disorder
  • Synonym(s):
    • Hunter-Thompson-Reed syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: -
  • Age of onset: Childhood
  • ICD-10: Q87.8
  • OMIM: -
  • UMLS: C5679607
  • MeSH: -
  • GARD: -
  • MedDRA: -

  A summary on this disease is available in Deutsch (2007) Español (2007) Français (2007) Italiano (2007) Nederlands (2007)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.