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Ectodermal dysplasia-sensorineural deafness syndrome
rareEctodermal 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.
- Identifiers
- MONDO:0009146 OMIM:224800Orphanet:1883
- Part of
- Ectodermal dysplasia syndrome
- Also known as
- congenital ectodermal dysplasia with hearing loss · ectodermal dysplasia-sensorineural hearing loss syndrome · hidrotic ectodermal dysplasia, sensorineural hearing loss and contracture of the fifth fingers · Mikaelian syndrome
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