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EEM syndrome

Disease definition

EEM syndrome is characterised by the association of ectodermal dysplasia, ectrodactyly, and macular dystrophy. So far, it has been described in individuals from seven families. Hypotrichosis, dental anomalies and absent eyebrows have also been reported. EMM syndrome appears to be transmitted as an autosomal recessive trait and may be caused by mutations in the cadherin-3 gene (CH3, 16q22.1).

ORPHA:1897

  • Synonym(s):
    • Ectodermal dysplasia-ectrodactyly-macular dystrophy syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Neonatal
  • ICD-10: Q87.8
  • OMIM: 225280
  • UMLS: C1857041
  • MeSH: -
  • GARD: 2078
  • MedDRA: -

Additional information

Further information on this disease

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