Conditions / Genetic
ischiocoxopodopatellar syndrome
info · Genetic
A dysostosis characterized by hypoplasia or aplasia of the patellas and various anomalies of the pelvis and feet that has_material_basis_in heterozygous mutation in the TBX4 gene on chromosome 17q23.2.
Signs and symptoms
- Patellar hypoplasia
- Cleft palate
- Short stature
- Short femur
- Talocalcaneal synostosis
- Flat capital femoral epiphysis
- Wide capital femoral epiphyses
- Patellar dislocation
- Patellar aplasia
- Coxa vara
Also known as: SPS; Scott-Taor syndrome; congenital coxa vara, patella aplasia and tarsal synostosis; coxo-podo-patellar syndrome; coxopodipatellar syndrome