Overview
Congenital absence of both the lower leg and foot on one side (unilateral) is a rare birth difference where a baby is born missing the lower portion of one leg, including the foot. This condition is present at birth and is sometimes called a congenital limb deficiency or limb reduction defect affecting the lower extremity. The term used in medical databases for this specific condition has been marked as 'obsolete,' meaning it may now be classified under broader or updated categories of congenital limb deficiencies. In this condition, the bones of the lower leg (the tibia and fibula) and the foot do not develop properly during pregnancy. The upper leg (thigh) and knee area may be partially or fully intact, depending on the individual case. The cause can vary — it may occur as an isolated finding with no clear genetic cause, or it may be part of a broader syndrome. In many cases, the exact reason is unknown. Treatment focuses on helping the child achieve the best possible mobility and quality of life. This typically involves prosthetic limbs (artificial legs), physical therapy, and sometimes surgical procedures to shape the residual limb for better prosthetic fitting. With modern prosthetics and rehabilitation, many individuals with this condition lead active, fulfilling lives. Early intervention and a supportive multidisciplinary care team are important for the best outcomes.
Key symptoms:
Missing lower leg and foot on one side from birthShortened or absent limb below the kneeDifficulty with balance and standingInability to walk without assistive devicesAsymmetry in leg lengthPossible differences in the knee joint structurePossible associated differences in the hip or upper leg on the affected side
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 both lower leg and foot, unilateral.
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Specialists
View all specialists →No specialists are currently listed for OBSOLETE: Congenital absence of both lower leg and foot, 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 both lower leg and foot, 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.Is this limb difference isolated, or could it be part of a genetic syndrome?,When should my child be fitted for their first prosthetic leg?,What type of physical therapy will my child need, and how often?,Will my child need any surgeries, and if so, when?,How often will the prosthesis need to be replaced as my child grows?,Are there any genetic tests recommended for our family?,What resources are available for emotional and psychological support?
Common questions about OBSOLETE: Congenital absence of both lower leg and foot, unilateral
What is OBSOLETE: Congenital absence of both lower leg and foot, unilateral?
Congenital absence of both the lower leg and foot on one side (unilateral) is a rare birth difference where a baby is born missing the lower portion of one leg, including the foot. This condition is present at birth and is sometimes called a congenital limb deficiency or limb reduction defect affecting the lower extremity. The term used in medical databases for this specific condition has been marked as 'obsolete,' meaning it may now be classified under broader or updated categories of congenital limb deficiencies. In this condition, the bones of the lower leg (the tibia and fibula) and the f
At what age does OBSOLETE: Congenital absence of both lower leg and foot, unilateral typically begin?
Typical onset of OBSOLETE: Congenital absence of both lower leg and foot, unilateral is neonatal. Age of onset can vary across affected individuals.