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GENATLAS PHENOTYPE
last update : 27-10-2009
Symbol NHS
Location Xp22.2
Name Nance-Horan syndrome
Other name(s)
  • mesiodens-cataract syndrome
  • cataract, X-linked, with Hutchinsonian teeth
  • congenital cataract and dental syndrome
    • Corresponding gene NHS
    Main clinical features
  • dense nuclear cataracts and frequently microcornea
  • bilateral congenital cataract (usually requiring early surgery in affected males) associated with microcornea and microphthalmia, multiple dental anomalies and characteristic facial features
  • large, anteverted pinnae and dental anomalies (irregular diastema, cone-shaped incisors, and in some cases supernumerary teeth), mental retardation(20p100 of cases)
  • in any cases association with Congenital diaphragmatic hernia (CDH)
    • Genetic determination sex linked
    Related entries . copy number variation of NHS in X-linked cataract but without other features of NHS (Coccia 2009)
    Function/system disorder congenital malformation
    eye
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    various types   truncated protein mutations or deletion truncating protein
    Remark(s) carrier females may show posterior Y-sutural cataracts with small corneas and only slightly reduced vision