先天发育异常-粗大面容-心脏缺陷-肥胖-肺部受累-身材矮小-骨骼发育异常综合征/CHOPS综合征
ORPHA:444077· ICD-10 Q87.8· Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome
- 患病率
- <1 / 1 000 000
- 遗传方式
- Autosomal dominant, Not applicable
- 发病年龄
- Antenatal, Neonatal