Coxopodopatellar syndrome

Coxopodopatellar syndrome, also known as small patella syndrome or Scott-Taor syndrome, is a rare genetic skeletal disorder primarily affecting the bones and joints of the lower extremities and pelvis. The hallmark features include hypoplasia (underdevelopment) or aplasia (absence) of the patella (kneecap), abnormalities of the pelvis such as hypoplasia of the ischiopubic junction, and foot anomalies including wide gaps between the first and second toes and flat feet. The condition is classified under skeletal dysplasias with predominant involvement of the limbs. Affected individuals may experience difficulties with knee stability and mobility due to the absent or small patella, which can lead to recurrent patellar dislocations and knee pain. Pelvic abnormalities, particularly ischiopubic hypoplasia, are a distinctive radiographic finding. Additional skeletal features may include short stature and other minor limb anomalies. The condition is caused by mutations in the TBX4 gene, which encodes a transcription factor critical for limb and pelvic development. There is no cure for coxopodopatellar syndrome, and management is primarily supportive and symptomatic. Treatment may include physical therapy to strengthen the muscles around the knee, orthopedic interventions such as bracing for knee instability, and in some cases surgical procedures to address patellar instability or foot deformities. Regular orthopedic follow-up is recommended to monitor skeletal development, particularly during childhood and adolescence. Genetic counseling is advised for affected families given the hereditary nature of the condition.

Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.

Common questions about Coxopodopatellar syndrome