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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.

ORPHA:1433

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: -

  A summary on this disease is available in Deutsch (2013) Español (2013) Français (2013) Italiano (2013) Nederlands (2013) Russian (2013, pdf) Polski ()

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

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.