Overview
WT limb-blood syndrome is an extremely rare genetic condition that affects both the limbs and the blood-forming system. It is also known as limb-blood syndrome or WT type limb deficiency with bone marrow failure. The condition is characterized by abnormalities in the development of the arms and hands (upper limb malformations) combined with a serious blood disorder called aplastic anemia, where the bone marrow fails to produce enough blood cells. This means patients may have missing or underdeveloped bones in their arms, thumbs, or hands, along with dangerously low levels of red blood cells, white blood cells, and platelets. Because the bone marrow does not work properly, affected individuals are at risk for severe anemia (causing fatigue and weakness), frequent infections (due to low white blood cells), and excessive bleeding or bruising (due to low platelets). The limb abnormalities are typically present at birth, while the bone marrow failure may develop during infancy or early childhood. Treatment focuses on managing the blood problems, which may include blood transfusions, medications to stimulate blood cell production, and in some cases, bone marrow transplantation. Orthopedic care and rehabilitation may be needed for the limb differences. Because this syndrome is so rare, management is highly individualized and requires a team of specialists.
Key symptoms:
Missing or underdeveloped thumbsShortened or absent forearm bonesAbnormal development of the hands or armsLow red blood cell count (anemia)Low white blood cell count leading to frequent infectionsLow platelet count causing easy bruising or bleedingFatigue and weaknessPale skinFrequent nosebleeds or prolonged bleeding from cutsBone marrow failurePoor growth
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for WT limb-blood syndrome.
View clinical trials →Clinical Trials
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Specialists
View all specialists →No specialists are currently listed for WT limb-blood 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 WT limb-blood 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.How severe is my child's bone marrow failure, and how is it likely to progress?,Is bone marrow transplantation recommended, and if so, when should we start looking for a donor?,How often will my child need blood tests and transfusions?,What signs of infection or bleeding should prompt an emergency visit?,Are there surgical options to improve my child's hand or arm function?,Should we pursue genetic testing for other family members?,Are there any clinical trials or new treatments being studied for this condition?
Common questions about WT limb-blood syndrome
What is WT limb-blood syndrome?
WT limb-blood syndrome is an extremely rare genetic condition that affects both the limbs and the blood-forming system. It is also known as limb-blood syndrome or WT type limb deficiency with bone marrow failure. The condition is characterized by abnormalities in the development of the arms and hands (upper limb malformations) combined with a serious blood disorder called aplastic anemia, where the bone marrow fails to produce enough blood cells. This means patients may have missing or underdeveloped bones in their arms, thumbs, or hands, along with dangerously low levels of red blood cells, w
How is WT limb-blood syndrome inherited?
WT limb-blood syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does WT limb-blood syndrome typically begin?
Typical onset of WT limb-blood syndrome is neonatal. Age of onset can vary across affected individuals.