Nance-Horan syndrome (cataract-dental syndrome)

Epidemiology

rare

Genetics

• X-linked
• associated with defects in NHS gene

Clinical manifestations

• congenital cataracts
• dental anomalies
  • supernumerary incisors
  • crown shaped permanent teeth.
• dysmorphic facila features
  • anteverted pinnae
  • long face
  • prominent nasal bridge & nose
• mental retardation (variable)
• carrier females display milder variable symptoms
  • lens opacities often involving the posterior Y sutures
  • dental anomalies (less frequent)
  • dysmorphic facial features (less frequent)

Database

• OMIM: https://mirror.omim.org/entry/302350