Conditions / Genetic
short-rib thoracic dysplasia 7 with or without polydactyly
info · Genetic · ICD-10: Q77.2
An asphyxiating thoracic dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the WDR35 gene on chromosome 2p21.1.
Signs and symptoms
- Epicanthus
- Micromelia
- Hypoplastic scapulae
- Pulmonary hypoplasia
- Short lingual frenulum
- Renal hypoplasia
- Brachydactyly
- Short stature
- Nail dysplasia
- Hepatic fibrosis
Also known as: SRPS5; SRTD7; short rib-polydactyly syndrome type V