Conditions / Genetic
short-rib thoracic dysplasia 10 with or without polydactyly
info · Genetic · ICD-10: Q77.2, Q87.5
An asphyxiating thoracic dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the IFT172 gene on chromosome 2p23.
Signs and symptoms
- Cholestasis
- Hepatic failure
- Thoracic hypoplasia
- Short stature
- Brachydactyly
- Bell-shaped thorax
- Hepatic fibrosis
- Hepatomegaly
- Chronic kidney disease
- Cone-shaped epiphyses of the phalanges of the hand
Also known as: SRTD10