Conditions / Genetic
asphyxiating thoracic dystrophy 1
info · Genetic · ICD-10: Q77.2
An asphyxiating thoracic dystrophy associated with variation in the region 15q13.
Signs and symptoms
- Fibular hypoplasia
- Pulmonary hypoplasia
- Nephritis
- Short stature
- Brachydactyly
- Renal insufficiency
- Hepatic fibrosis
- Pulmonic regurgitation
- Chronic kidney disease
- Bile duct proliferation
Also known as: ATD1; SRTD1; short-rib thoracic dysplasia 1 with or without polydactyly