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ADULT syndrome

Disease definition

A rare ectodermal dysplasia syndrome characterized by ectrodactyly, syndactyly, mammary hypoplasia, and excessive freckling as well as other typical ectodermal defects such as hypodontia, lacrimal duct anomalies, hypotrichosis, and onychodysplasia.

ORPHA:978

Classification level: Disorder
  • Synonym(s):
    • Acro-dermato-ungual-lacrimal-tooth syndrome
    • Pigment anomaly-ectrodactyly-hypodontia syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Neonatal, Antenatal
  • ICD-10: Q87.2
  • OMIM: 103285
  • UMLS: C1863204
  • MeSH: C538052
  • GARD: 384
  • MedDRA: -

Detailed information

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