Overview
This condition, listed as 'Congenital absence of thigh and lower leg with foot present, unilateral,' is an extremely rare limb difference that a baby is born with. In this condition, one leg is missing the thigh (upper leg) and the lower leg (the part between the knee and ankle), but the foot is still present on that side. The other leg is normal. This means the foot is attached very close to the hip area without the usual long bones of the leg in between. This type of birth difference falls under a broader group of conditions called limb reduction defects or phocomelia-like conditions. The exact cause is often unknown, though in some cases it may be related to disruptions in blood supply during early fetal development, genetic factors, or environmental exposures during pregnancy. Because this entry is marked as 'OBSOLETE' in the Orphanet classification system, it has likely been reclassified or merged into a broader or more specific diagnostic category. Patients and families should work with their medical team to identify the most current and accurate diagnosis. Treatment typically involves a team of specialists and may include prosthetic limbs, physical therapy, and sometimes surgical procedures to improve function and mobility. Many individuals with limb differences go on to live full, active lives with appropriate support and adaptive equipment.
Key symptoms:
Absence of the thigh bone on one sideAbsence of the lower leg bones on one sideFoot present but attached near the hip on the affected sideSignificant leg length difference between the two sidesDifficulty with walking and standingReduced mobility without assistive devicesPossible hip joint abnormalities on the affected sideAsymmetry in body posture and balance
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: Congenital absence of thigh and lower leg with foot present, unilateral.
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View all trials with filters →No actively recruiting trials found for OBSOLETE: Congenital absence of thigh and lower leg with foot present, unilateral at this time.
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Specialists
View all specialists →No specialists are currently listed for OBSOLETE: Congenital absence of thigh and lower leg with foot present, 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: Congenital absence of thigh and lower leg with foot present, unilateral.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
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 anatomy of my child's limb difference, and are there any associated conditions?,Should we pursue genetic testing to look for an underlying cause?,When should we start fitting for a prosthetic limb, and how often will it need to be replaced?,What surgical options might be considered now or in the future?,What physical therapy and rehabilitation services do you recommend?,Are there specialized limb difference clinics or multidisciplinary teams we should be referred to?,How can we connect with other families who have children with similar limb differences?
Common questions about OBSOLETE: Congenital absence of thigh and lower leg with foot present, unilateral
What is OBSOLETE: Congenital absence of thigh and lower leg with foot present, unilateral?
This condition, listed as 'Congenital absence of thigh and lower leg with foot present, unilateral,' is an extremely rare limb difference that a baby is born with. In this condition, one leg is missing the thigh (upper leg) and the lower leg (the part between the knee and ankle), but the foot is still present on that side. The other leg is normal. This means the foot is attached very close to the hip area without the usual long bones of the leg in between. This type of birth difference falls under a broader group of conditions called limb reduction defects or phocomelia-like conditions. The ex
How is OBSOLETE: Congenital absence of thigh and lower leg with foot present, unilateral inherited?
OBSOLETE: Congenital absence of thigh and lower leg with foot present, unilateral follows a sporadic inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does OBSOLETE: Congenital absence of thigh and lower leg with foot present, unilateral typically begin?
Typical onset of OBSOLETE: Congenital absence of thigh and lower leg with foot present, unilateral is neonatal. Age of onset can vary across affected individuals.