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Exostoses-anetodermia-brachydactyly type E syndrome

Disease definition

An association reported in a single kindred characterized by the variable presence of the following features: anetodermia (macular atrophy of the skin), multiple exostoses, and brachydactyly type E. There have been no further descriptions in the literature since 1985.

ORPHA:1962

Classification level: Disorder
  • Synonym(s): -
  • Prevalence: <1 / 1 000 000
  • Inheritance: Unknown 
  • Age of onset: Neonatal
  • ICD-10: Q87.5
  • ICD-11: LD24.21
  • OMIM: 133690
  • UMLS: C4518772
  • MeSH: -
  • GARD: 2202
  • MedDRA: -

  A summary on this disease is available in Deutsch (2016) Español (2016) Italiano (2016) Nederlands (2016)

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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.