Синдром Йохансона-Блізард
ORPHA:2315· ICD-10 Q87.8· Johanson-Blizzard syndrome
Визначення(English summary)
Johanson-Blizzard syndrome (JBS) is a multiple congenital anomaly characterized by exocrine pancreatic insufficiency, hypoplasia/aplasia of the nasal alae, hypodontia, sensorineural hearing loss, growth retardation, anal and urogenital malformations, and variable intellectual disability.
- Поширеність
- 1-9 / 1 000 000
- Успадкування
- Autosomal recessive
- Вік початку
- Antenatal, Infancy, Neonatal