Orphanet: Ectodermal dysplasia sensorineural deafness syndrome
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Ectodermal dysplasia-sensorineural deafness syndrome

Disease definition

Ectodermal dysplasia-sensorineural deafness syndrome is characterised by hidrotic ectodermal dysplasia, sensorineural hearing loss, and contracture of the fifth fingers. It has been described in brother and sister born to consanguineous parents. The girl also presented with thoracic scoliosis. The mode of inheritance is likely to be autosomal recessive.

ORPHA:1883

Classification level: Disorder
  • Synonym(s):
    • Ectodermal dysplasia-sensorineural hearing loss syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Childhood
  • ICD-10: Q82.4
  • OMIM: 224800
  • UMLS: C1857068
  • MeSH: -
  • GARD: 9723
  • MedDRA: -

  A summary on this disease is available in Deutsch (2007) Español (2007) Français (2007) Italiano (2007) Nederlands (2007)

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