Living with Short femur
A condition present at birth in which the thigh bone is shorter than usual or partly missing.
Understanding Short femur
CFD most often affects one leg but can affect both. It ranges from a slightly short femur that looks typical to a femur that is mostly or completely missing. The hip and knee joints may also be weak or unstable. It is noticed during pregnancy or in the newborn period.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet. Based on its summary, it involves:
- Shorter thigh bone
- Thigh bone partly or fully missing
- Unstable hip joint
- Unstable knee joint
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.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- 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 rare disease patient organizations for support
- 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
GARD says the cause is usually not known and it does not appear to be inherited. Taking the drug thalidomide during pregnancy can cause it.
Also known as: congenital hypoplasia of femur; congenital short femur; femoral agenesis/hypoplasia; femoral hypoplasia; femoral intercalary meromelia; hypoplasia of the femora
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Short femur.
Explore research for Short femur
Explore actively recruiting Short femur studies with HealthSpark.
Find actively recruiting studies for Short femur with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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