Overview
Femoral agenesis or hypoplasia, unilateral, refers to a condition where one thigh bone (femur) is either completely absent (agenesis) or underdeveloped (hypoplasia) on one side of the body. This is a congenital condition, meaning it is present at birth. The femur is the large bone in the upper leg, and when it does not form properly on one side, it can lead to a significant difference in leg length, difficulty walking, and challenges with mobility. Please note that this specific Orphanet entry (295065) has been marked as 'OBSOLETE,' which means it has been retired or merged into a broader or updated classification. Patients and families looking for information should search under the broader category of proximal femoral focal deficiency (PFFD) or congenital femoral deficiency, which covers a range of conditions where the femur does not develop normally. The severity can vary widely — some individuals have a mildly shortened femur, while others may have a nearly absent thigh bone. Treatment typically involves orthopedic interventions such as limb-lengthening surgery, prosthetic devices, or reconstructive surgery, depending on the severity. Early evaluation by a pediatric orthopedic specialist is important to plan the best approach for mobility and quality of life. Physical therapy also plays a key role in helping children develop strength and movement skills.
Also known as:
Key symptoms:
One leg noticeably shorter than the otherAbsent or very small thigh bone on one sideDifficulty walking or standingLimping or abnormal gaitHip joint instability on the affected sideKnee joint abnormalities on the affected sideReduced range of motion in the hip or kneeMuscle weakness in the affected legFoot or ankle abnormalities on the same sidePelvic tilt or spinal curvature due to leg length difference
Sporadic
Usually appears on its own, not inherited from a parent
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for OBSOLETE: Femoral agenesis/hypoplasia, unilateral.
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Specialists
View all specialists →No specialists are currently listed for OBSOLETE: Femoral agenesis/hypoplasia, unilateral.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to OBSOLETE: Femoral agenesis/hypoplasia, unilateral.
Community
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Caregiver Resources
NORD Caregiver Resources
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Mental Health Support
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Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.What classification or severity level does my child's femoral deficiency fall into?,What are the treatment options, and what is the recommended timeline for interventions?,Would limb-lengthening surgery be appropriate, and what are the risks and benefits?,Should my child be evaluated by a geneticist to rule out other conditions?,What kind of prosthetic or orthotic device would be best at this stage?,How can we best support my child's mobility and physical development?,Are there support groups or resources for families dealing with limb differences?
Common questions about OBSOLETE: Femoral agenesis/hypoplasia, unilateral
What is OBSOLETE: Femoral agenesis/hypoplasia, unilateral?
Femoral agenesis or hypoplasia, unilateral, refers to a condition where one thigh bone (femur) is either completely absent (agenesis) or underdeveloped (hypoplasia) on one side of the body. This is a congenital condition, meaning it is present at birth. The femur is the large bone in the upper leg, and when it does not form properly on one side, it can lead to a significant difference in leg length, difficulty walking, and challenges with mobility. Please note that this specific Orphanet entry (295065) has been marked as 'OBSOLETE,' which means it has been retired or merged into a broader or u
How is OBSOLETE: Femoral agenesis/hypoplasia, unilateral inherited?
OBSOLETE: Femoral agenesis/hypoplasia, unilateral follows a sporadic inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does OBSOLETE: Femoral agenesis/hypoplasia, unilateral typically begin?
Typical onset of OBSOLETE: Femoral agenesis/hypoplasia, unilateral is neonatal. Age of onset can vary across affected individuals.