Overview
Absence deformity of leg-cataract syndrome is a very rare condition present from birth that affects two main parts of the body: the legs and the eyes. People with this syndrome are born with missing or underdeveloped bones or structures in one or both legs — this is called an 'absence deformity.' At the same time, they develop cataracts, which are cloudy areas in the lens of the eye that can blur or block vision. The syndrome may also be referred to as leg absence defect with cataract or congenital leg absence-cataract syndrome. The leg differences can range from a missing lower leg or foot to a shorter or malformed limb, which can affect how a person walks and moves. The cataracts are usually present at birth or develop in early childhood, and if not treated quickly, they can lead to permanent vision problems. Because both the limb and eye problems are present together, this syndrome is thought to be caused by a disruption in development before birth. Treatment focuses on managing each problem separately. Eye surgery to remove the cataract and correct vision is often done early in life to protect sight. Limb differences are managed with prosthetics, physical therapy, and sometimes surgery to improve mobility and function. There is no cure for the underlying syndrome, but with the right support, many people can lead active and fulfilling lives.
Key symptoms:
Missing or underdeveloped bones in one or both legsShorter than normal leg or footCloudy lens in one or both eyes (cataracts) present at or shortly after birthBlurry or reduced visionDifficulty walking or abnormal gaitPossible need for a prosthetic limbLazy eye (amblyopia) as a result of untreated cataract
Clinical phenotype terms (9)— hover any for plain English
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 Absence deformity of leg-cataract syndrome.
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Specialists
View all specialists →No specialists are currently listed for Absence deformity of leg-cataract syndrome.
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 Absence deformity of leg-cataract syndrome.
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 genetic tests should we do to understand the cause of this syndrome in our child?,How soon should cataract surgery be done, and what are the risks if we wait?,What type of prosthetic limb is best for my child's specific limb difference, and when should we start?,Will my child's vision and mobility improve over time with treatment?,Are there other health problems we should watch for that are associated with this syndrome?,What therapies — physical, occupational, or vision — should we start right away?,Are there other families or support groups we can connect with who have experience with this condition?
Common questions about Absence deformity of leg-cataract syndrome
What is Absence deformity of leg-cataract syndrome?
Absence deformity of leg-cataract syndrome is a very rare condition present from birth that affects two main parts of the body: the legs and the eyes. People with this syndrome are born with missing or underdeveloped bones or structures in one or both legs — this is called an 'absence deformity.' At the same time, they develop cataracts, which are cloudy areas in the lens of the eye that can blur or block vision. The syndrome may also be referred to as leg absence defect with cataract or congenital leg absence-cataract syndrome. The leg differences can range from a missing lower leg or foot t
At what age does Absence deformity of leg-cataract syndrome typically begin?
Typical onset of Absence deformity of leg-cataract syndrome is neonatal. Age of onset can vary across affected individuals.