Синдром ектодермальної дисплазії- сенсоневральної приглухуватості
ORPHA:1883· ICD-10 Q82.4· Ectodermal dysplasia-sensorineural deafness syndrome
Визначення(English summary)
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.
- Поширеність
- <1 / 1 000 000
- Успадкування
- Autosomal recessive
- Вік початку
- Childhood, Infancy