Conditions / Genetic
asphyxiating thoracic dystrophy 3
info · Genetic · ICD-10: Q77.2
An asphyxiating thoracic dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the DYNC2H1 gene on chromosome 11q22.
Signs and symptoms
- Lateral clavicle hook
- Metaphyseal widening
- Femoral bowing
- Thoracic hypoplasia
- Brachydactyly
- Short stature
- Metaphyseal spurs
- Short ribs
- Polycystic kidney dysplasia
- Short long bone
Also known as: ATD3; SRPS1; SRPS2B; SRPS3; SRTD3