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Ectodermal dysplasia-sensorineural deafness syndrome

What is Ectodermal dysplasia-sensorineural deafness syndrome?

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.

Other condition names

  • Ectodermal dysplasia-sensorineural hearing loss syndrome

Inheritance type

Autosomal recessive

Prevalence

  • Worldwide: <1 in 1,000 000

Age of Onset

  • Childhood
  • Infancy
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on "https://www.orphadata.com". Data version 1.3.16 / 4.1.7.