Ectodermal dysplasia-sensorineural deafness syndrome

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Synonyms: Ectodermal dysplasia-sensorineural hearing loss 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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version May 2024

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