Conditions / Genetic
short-rib thoracic dysplasia 6 with or without polydactyly
info · Genetic · ICD-10: Q77.2
An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the NEK1 gene on chromosome 4q33.
Signs and symptoms
- Preaxial hand polydactyly
- Pulmonary hypoplasia
- Polysyndactyly of hallux
- Hypermetropia
- Brachydactyly
- Ambiguous genitalia
- Median cleft upper lip
- Hydrops fetalis
- Narrow chest
- Lateral clavicle hook
Also known as: Majewski syndrome; SRPS2A; SRTD6; polydactyly with neonatal chondrodystrophy, type II; short rib-polydactyly syndrome type IIA