Синдром розщепленої кисті-розщепленої стопи-глухоти
ORPHA:71271· ICD-10 Q87.2· Split hand-split foot-deafness syndrome
Визначення(English summary)
Split hand - split foot - deafness is an extremely rare genetic syndrome reported in a few families to date and characterized clinically by split hand/split foot malformation (SHFM; see this term) and mild to moderate sensorineural hearing loss, sometimes associated with cleft palate and intellectual deficit.
- Поширеність
- <1 / 1 000 000
- Успадкування
- Autosomal recessive
- Вік початку
- Infancy, Neonatal