Conditions / Genetic
asphyxiating thoracic dystrophy 2
info · Genetic · ICD-10: Q77.2
An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the IFT80 gene on chromosome 3q25.
Signs and symptoms
- Mesomelia
- Short foot
- Rhizomelia
- Brachydactyly
- Postaxial hand polydactyly
- Short metacarpal
- Narrow chest
- Broad palm
Also known as: ATD2; SRTD2; short-rib thoracic dysplasia 2 with or without polydactyly