Blepharophimosis syndrome Ohdo type


An extremely rare syndrome characterized primarily by mental retardation and eye anomalies. Only a handful of cases have been reported.

Symptoms Hide

  • Drooping upper eyelid
  • Short eyelid
  • Mental retardation
  • Congenital hypothyroidism
  • Small head
  • Neurological anomalies
  • Congenital heart disease
  • Underdeveloped teeth

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