Overview
This condition, listed as 'Congenital absence of thigh and lower leg with foot present, bilateral,' is an extremely rare limb malformation that is present at birth. In this condition, both legs are missing the thigh (femur) and the lower leg (tibia and fibula) bones, but the feet are still present on both sides. This means the feet are attached close to the hip area without the usual long bones of the legs in between. The term 'OBSOLETE' in the disease name means that this specific classification is no longer actively used in current medical coding systems, and the condition may now be categorized under broader terms for congenital limb deficiencies or limb reduction defects. Congenital limb deficiencies like this one can occur as isolated findings or as part of a broader syndrome. The exact cause in many cases remains unknown, though some cases may be linked to genetic factors, disruptions in blood supply during fetal development, or environmental exposures during pregnancy. Because this is an extremely rare presentation, medical literature on this specific pattern is very limited. Treatment focuses on maximizing mobility and independence. This typically involves prosthetic limbs custom-designed for the individual, physical therapy, occupational therapy, and sometimes surgical procedures to improve the fit of prosthetics or correct associated skeletal issues. With modern prosthetic technology and rehabilitation, many individuals with congenital limb deficiencies lead active and fulfilling lives.
Key symptoms:
Absence of both thigh bones (femurs) at birthAbsence of both lower leg bones (tibia and fibula) at birthFeet present but attached near the hip areaSeverely shortened or absent legs on both sidesDifficulty with mobility and walkingPossible hip joint abnormalitiesPossible differences in foot structure or alignmentSignificant difference in body proportions
Variable
Can be inherited in different ways depending on the underlying gene
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, bilateral.
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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, bilateral.
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, bilateral.
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 caused this limb difference, and is genetic testing recommended for our family?,When should my child be fitted for their first prosthetic limbs?,What type of physical therapy program is best, and how often should sessions occur?,Are there any surgical options that could improve function or prosthetic fit?,Is this condition part of a broader syndrome, and should we screen for other health issues?,What resources and support groups are available for families affected by limb differences?,How often will prosthetics need to be replaced as my child grows?
Common questions about OBSOLETE: Congenital absence of thigh and lower leg with foot present, bilateral
What is OBSOLETE: Congenital absence of thigh and lower leg with foot present, bilateral?
This condition, listed as 'Congenital absence of thigh and lower leg with foot present, bilateral,' is an extremely rare limb malformation that is present at birth. In this condition, both legs are missing the thigh (femur) and the lower leg (tibia and fibula) bones, but the feet are still present on both sides. This means the feet are attached close to the hip area without the usual long bones of the legs in between. The term 'OBSOLETE' in the disease name means that this specific classification is no longer actively used in current medical coding systems, and the condition may now be categor
At what age does OBSOLETE: Congenital absence of thigh and lower leg with foot present, bilateral typically begin?
Typical onset of OBSOLETE: Congenital absence of thigh and lower leg with foot present, bilateral is neonatal. Age of onset can vary across affected individuals.