ischiocoxopodopatellar syndrome

Term ID

DOID:0111382

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. (2)

References

• GARD:3030
• MESH:C535540
• MESH:C536307
• OMIM:147891
• ORDO:1509
• SNOMEDCT_US_2023_03_01:720752007
• UMLS_CUI:C1840061
• UMLS_CUI:C1868581

Ontology

Human Disease   ( DOID:0111382 )