Ectodermal dysplasia-sensorineural deafness syndrome

MONDO:0009146

Ectodermal dysplasia-sensorineural deafness syndrome is characterized 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.

Also known as: ectodermal dysplasia-sensorineural hearing loss syndrome, Mikaelian syndrome, congenital ectodermal dysplasia with hearing loss, ectodermal dysplasia and neurosensory deafness, hidrotic ectodermal dysplasia, sensorineural hearing loss and contracture of the fifth fingers

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