Living with Coxopodopatellar syndrome
A rare genetic condition (small patella syndrome) with very small or missing kneecaps and hip and foot bone differences.
Understanding Coxopodopatellar syndrome
People usually have very small kneecaps or none at all. The hip bones may be weak and the foot bones may not form correctly. Sometimes the bones in the face are affected. It is suspected from an exam and X-rays, and genetic testing can confirm it. It starts in newborns and infants.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Small or missing kneecaps
- Hip dysplasia
- Pelvic bone differences
- Foot bone differences
- Knee problems
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include bone and joint specialists and genetic specialists.
- 3Consider genetic testing
Changes in TBX4 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
TBX4Life may keep lists of experts for this condition.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Genetic specialists (geneticists)
- Expert care
- Expert lists: TBX4Life
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with TBX4Life
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
It is caused by changes in the TBX4 gene. It is autosomal dominant, meaning one changed copy of the gene can be enough to cause it.
Also known as: congenital coxa vara, patella aplasia and tarsal synostosis; ischiocoxopodopatellar syndrome; ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension; ischiopatellar dysplasia; patella aplasia, coxa vara, and tarsal synostosis; scott taor syndrome
Patient organizations
- TBX4LifeCoxopodopatellar syndrome · United States
You are more than your diagnosis
Perspectives from people navigating life with Coxopodopatellar syndrome.
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