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Aplasia cutis-myopia syndrome

Disease definition

A rare disorder characterised by the association of aplasia cutis congenita with high myopia, congenital nystagmus and cone-rod dysfunction. It has been described in two siblings (brother and sister). Transmission is autosomal dominant.

ORPHA:1117

Classification level: Disorder
  • Synonym(s):
    • Gershoni-Baruch-Leibo syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Neonatal
  • ICD-10: Q84.8
  • ICD-11: LD27.Y
  • OMIM: 601075
  • UMLS: C4304032
  • MeSH: -
  • GARD: 756
  • MedDRA: -

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

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Further information on this disease

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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.