Conditions / Genetic
short-rib thoracic dysplasia 14 with polydactyly
info · Genetic · ICD-10: Q04.3
An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the KIAA0586 gene on chromosome 14q23.
Signs and symptoms
- Molar tooth sign on MRI
- Pulmonary hypoplasia
- Generalized hypotonia
- Narrow chest
- Short ribs
- Cerebellar vermis hypoplasia
- Hyporeflexia
- Cleft palate
- Polyhydramnios
- Postaxial polydactyly
Also known as: SRTD14