small patella syndrome; ischiopatellar dysplasia; Scott-Taor syndrome

Pathology

• skeletal dysplasia

Genetics

• autosomal dominant
• associated with defects in TBX4

Clinical manifestations

• patellar aplasia or hypoplasia
• anomalies of the pelvis & feet, including disrupted ossification of the ischia & inferior pubic rami

More general terms

• genetic syndrome (multisystem disorder)

Database

• OMIM: https://mirror.omim.org/entry/147891