Conditions / Genetic
asphyxiating thoracic dystrophy 4
info · Genetic · ICD-10: Q77.2
An asphyxiating thoracic dystrophy has_material_basis_in compound heterozygous mutation in the TTC21B gene on chromosome 2q24.
Signs and symptoms
- Short long bone
- Stage 5 chronic kidney disease
- Brachydactyly
- Narrow chest
- Scoliosis
- Short stature
- Hepatic cysts
- Polydactyly
Also known as: ATD4; SRTD4; short-rib thoracic dysplasia 4 with or without polydactyly