Conditions / Genetic
short-rib thoracic dysplasia 11 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 WDR34 gene on chromosome 9q34.
Signs and symptoms
- Short long bone
- Brachydactyly
- Bell-shaped thorax
- Respiratory insufficiency
- Horizontal ribs
- Recurrent respiratory infections
- Narrow chest
- Lateral clavicle hook
- Thoracic dysplasia
- Nephrocalcinosis
Also known as: SRTD11