Conditions / Genetic
short-rib thoracic dysplasia 13 with or without polydactyly
info · Genetic · ICD-10: Q77.2
An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the CEP120 gene on chromosome 5q23.
Signs and symptoms
- Narrow chest
- Short ribs
- Short long bone
- Preaxial polydactyly
- Horizontal ribs
- Fibular hypoplasia
- Rhizomelia
- Pulmonary hypoplasia
- Anal atresia
- Renal hypoplasia
Also known as: SRTD13