Conditions / Genetic
short-rib thoracic dysplasia 8 with or without polydactyly
info · Genetic · ICD-10: Q77.2
An asphyxiating thoracic dystrophy that has_material_basis_in compound heterozygous mutation in the WDR60 gene on chromosome 7q36.
Signs and symptoms
- Short long bone
- Polyhydramnios
- Femoral bowing
- Pulmonary hypoplasia
- Brachydactyly
- Short stature
- Ambiguous genitalia
- Acetabular spurs
- Depressed nasal bridge
- Pancreatic fibrosis
Also known as: SRPS6; SRTD8; short rib-polydactyly syndrome type VI