Overview
Isolated absence of thigh and lower leg with foot present is a very rare congenital limb deficiency, meaning it is present at birth. In this condition, a baby is born missing the thigh bone (femur) and the bones of the lower leg (tibia and fibula), but the foot is still present and attached. The foot may connect directly to the hip area or be positioned close to the body where the leg would normally be. This condition is sometimes referred to as a type of phocomelia, where a limb's middle segments are absent while the end part (in this case, the foot) remains. It typically affects one or both legs. The exact cause of this condition is not well understood in most cases. It may occur as an isolated birth defect without other associated abnormalities. The condition is apparent at birth and is usually detected during prenatal ultrasound imaging. Because the structural bones that normally support standing and walking are absent, mobility is significantly affected. Treatment focuses on maximizing function and mobility. This usually involves a team of specialists including orthopedic surgeons, prosthetists, and rehabilitation therapists. Prosthetic devices are often custom-designed to help the child stand, walk, and participate in daily activities. In some cases, surgical procedures may be considered to improve limb alignment or optimize prosthetic fitting. Early intervention with physical therapy is important to help children develop motor skills and independence. With appropriate support, many individuals with this condition lead active and fulfilling lives.
Key symptoms:
Absence of the thigh bone (femur)Absence of the lower leg bones (tibia and fibula)Foot attached directly near the hip or trunkShortened or absent legDifficulty standing without supportDifficulty walking without assistive devicesAsymmetry in leg length if only one side is affectedLimited range of motion at the hipPossible hip joint abnormalitiesMuscle underdevelopment in the affected limb area
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 Isolated absence of thigh and lower leg with foot present.
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Specialists
View all specialists →No specialists are currently listed for Isolated absence of thigh and lower leg with foot present.
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 Isolated absence of thigh and lower leg with foot present.
Community
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Caregiver Resources
NORD Caregiver Resources
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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 is the exact extent of the bone deficiency, and how does it affect my child's hip and foot?,When should we start prosthetic fitting, and how often will the prosthesis need to be replaced?,Are there any surgical options that could improve function or prosthetic fit?,Should we pursue genetic testing to rule out any associated conditions?,What physical therapy and rehabilitation services do you recommend?,Are there any clinical trials or new treatments being studied for limb deficiencies?,What resources are available for emotional and psychological support for our family?
Common questions about Isolated absence of thigh and lower leg with foot present
What is Isolated absence of thigh and lower leg with foot present?
Isolated absence of thigh and lower leg with foot present is a very rare congenital limb deficiency, meaning it is present at birth. In this condition, a baby is born missing the thigh bone (femur) and the bones of the lower leg (tibia and fibula), but the foot is still present and attached. The foot may connect directly to the hip area or be positioned close to the body where the leg would normally be. This condition is sometimes referred to as a type of phocomelia, where a limb's middle segments are absent while the end part (in this case, the foot) remains. It typically affects one or both
How is Isolated absence of thigh and lower leg with foot present inherited?
Isolated absence of thigh and lower leg with foot present follows a sporadic inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Isolated absence of thigh and lower leg with foot present typically begin?
Typical onset of Isolated absence of thigh and lower leg with foot present is neonatal. Age of onset can vary across affected individuals.