OBSOLETE: Congenital absence of both lower leg and foot, bilateral

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ORPHA:295099
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Overview

Congenital absence of both lower legs and feet (bilateral) is a rare limb deficiency condition that is present at birth. In this condition, a baby is born without the lower portions of both legs, which includes the area below the knee and the feet. This entry in the Orphanet database is marked as 'OBSOLETE,' meaning it has been retired or reclassified and may now fall under a broader or updated category of congenital limb deficiencies. Congenital limb deficiencies can occur as isolated findings or as part of a larger syndrome involving other body systems. The cause can vary and may include genetic factors, disruptions in blood supply during fetal development, amniotic band syndrome, or sometimes no identifiable cause at all. Children born with this condition typically require prosthetic limbs to help with mobility and daily activities. Treatment focuses on rehabilitation, physical therapy, and fitting appropriate prostheses as the child grows. Surgical procedures may sometimes be needed to shape the residual limb for better prosthetic fitting. With modern prosthetic technology and supportive care, many individuals with bilateral lower limb deficiencies lead active and fulfilling lives. Early intervention with a multidisciplinary team is important to optimize mobility and development.

Also known as:

Key symptoms:

Absence of both lower legs below the knee at birthAbsence of both feet at birthShortened or absent leg bones (tibia and fibula)Difficulty with mobility and walkingPossible differences in hip or knee joint developmentPossible associated limb abnormalitiesNeed for prosthetic devices for standing and walking

Inheritance

Variable

Can be inherited in different ways depending on the underlying gene

Age of Onset

Neonatal

Begins at or shortly after birth (first 4 weeks)

Orphanet ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for OBSOLETE: Congenital absence of both lower leg and foot, bilateral.

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No actively recruiting trials found for OBSOLETE: Congenital absence of both lower leg and foot, bilateral at this time.

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No specialists are currently listed for OBSOLETE: Congenital absence of both lower leg and foot, bilateral.

View NORD Rare Disease Centers ↗Undiagnosed Disease Network ↗

Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA 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, bilateral.

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Community

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Latest news about OBSOLETE: Congenital absence of both lower leg and foot, bilateral

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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 my child's limb deficiency isolated or could it be part of a larger syndrome?,Should we pursue genetic testing to look for an underlying cause?,When should my child be fitted for their first prosthetic limbs?,How often will the prostheses need to be replaced as my child grows?,What types of physical therapy and rehabilitation are recommended?,Are there any surgical options that could improve prosthetic fitting or function?,What psychological or social support services are available for our family?

Common questions about OBSOLETE: Congenital absence of both lower leg and foot, bilateral

What is OBSOLETE: Congenital absence of both lower leg and foot, bilateral?

Congenital absence of both lower legs and feet (bilateral) is a rare limb deficiency condition that is present at birth. In this condition, a baby is born without the lower portions of both legs, which includes the area below the knee and the feet. This entry in the Orphanet database is marked as 'OBSOLETE,' meaning it has been retired or reclassified and may now fall under a broader or updated category of congenital limb deficiencies. Congenital limb deficiencies can occur as isolated findings or as part of a larger syndrome involving other body systems. The cause can vary and may include gen

At what age does OBSOLETE: Congenital absence of both lower leg and foot, bilateral typically begin?

Typical onset of OBSOLETE: Congenital absence of both lower leg and foot, bilateral is neonatal. Age of onset can vary across affected individuals.