Синдром низькорослості-глухоти-нейтрофільної дисфункції-дисморфізму
ORPHA:2866· ICD-10 Q87.1· Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome
Визначення(English summary)
A rare developmental defect during embryogenesis malformation syndrome characterized by proportionate short stature, sensorineural deafness, mutism, facial dysmorphism and recurrent infections as a result of abnormal neutrophil chemotaxis. There have been no further descriptions in the literature since 1978.
- Поширеність
- <1 / 1 000 000
- Вік початку
- Antenatal, Neonatal