Синдром Швахмана-Даймонда
ORPHA:811· ICD-10 D61.0· Shwachman-Diamond syndrome
Визначення(English summary)
Shwachman-Diamond syndrome (SDS) is a rare multisystemic syndrome characterized by chronic and usually mild neutropenia, pancreatic exocrine insufficiency associated with steatorrhea and growth failure, skeletal dysplasia with short stature, and an increased risk of bone marrow aplasia or leukemic transformation.
- Поширеність
- 1-9 / 1 000 000
- Успадкування
- Autosomal recessive
- Вік початку
- Antenatal, Childhood, Infancy, Neonatal