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Choroidal atrophy-alopecia syndrome

Disease definition

A rare ectodermal dysplasia syndrome, characterized by the association of choroidal atrophy (sometimes regional), together with other ectodermal dysplasia features including fine and sparse hair, absent or decreased lashes and eyebrows, and possibly mild visual loss and dysplastic/thick/grooved nails.


Classification level: Disorder
  • Synonym(s):
    • Moloney syndrome
    • Regional choroidal atrophy and alopecia
  • Prevalence: <1 / 1 000 000
  • Inheritance: Unknown 
  • Age of onset: Neonatal
  • ICD-10: Q82.8
  • ICD-11: LD27.0Y
  • OMIM: -
  • UMLS: C2931026
  • MeSH: C535810
  • GARD: 3704
  • MedDRA: -
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