Ectodermal dysplasia-sensorineural deafness syndrome

Orpha code: 1883OMIM code: 224800

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.

Disease data
Classification

Malformation syndrome

Synonyms
Ectodermal dysplasia-sensorineural hearing loss syndrome
ORPHA code
1883
OMIM code
224800
ICD10 code
Q82.4
ICD11 code
LD27.0Y

No additional description.

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