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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
General
genetic syndrome (multisystem disorder)
Database Correlations
OMIM 147891
References
OMIM :accession 147891