Term Name:	ischiocoxopodopatellar syndrome
Synonyms:	congenital coxa vara, patella aplasia and tarsal synostosis, coxo-podo-patellar syndrome, coxopodipatellar syndrome, ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension, ischiopatellar dysplasia, patella aplasia, coxa vara, and tarsal synostosis, Scott-Taor syndrome, small patella syndrome, SPS
Definition:	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.
Ontology:	Human Disease [DOID:0111382]   ( DOID:0111382 )