Conditions / Genetic
short-rib thoracic dysplasia 9 with or without polydactyly
info · Genetic · ICD-10: Q87.5
An asphyxiating thoracic dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the IFT140 gene on chromosome 16p13.
Signs and symptoms
- Poor head control
- Thoracic hypoplasia
- Trigonocephaly
- Rod-cone dystrophy
- Posteriorly rotated ears
- Nephronophthisis
- Clinodactyly of the 2nd finger
- Short middle phalanx of finger
- Absent middle phalanx of 2nd finger
- Pancreatic cysts
Also known as: SRTD9; renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia