Overview
B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome is a very rare genetic condition that affects several parts of the body at the same time. It is sometimes referred to by its Orphanet code ORPHA:567502. The condition involves three main areas of the body: the immune system, the limbs (arms and legs), and the urogenital system (the kidneys, bladder, and reproductive organs). People with this syndrome have a weakened immune system because their B-cells — a type of white blood cell that helps fight infections — do not work properly or are present in very low numbers. This makes it harder for the body to fight off bacteria and viruses, leading to frequent or serious infections. At the same time, affected individuals are often born with physical differences in their arms or legs, such as missing or underdeveloped fingers, toes, or limb segments. Problems with the kidneys, bladder, or genitals are also commonly seen. Because this condition is extremely rare and was only recently described, our understanding of it is still growing. Treatment focuses on managing symptoms — especially protecting against infections through immunoglobulin replacement therapy and antibiotics — and addressing the physical differences through surgery or supportive care. There is currently no cure. A team of specialists is usually needed to provide the best care.
Also known as:
Key symptoms:
Very low levels of B-cells (immune cells that fight infection)Frequent or severe bacterial infectionsMissing or underdeveloped fingers or toesShortened or malformed arms or legsKidney abnormalities present from birthBladder or urinary tract malformationsAbnormal development of the genitalsRecurrent respiratory infections such as pneumoniaPoor growth or failure to thrive in infancy
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for B-cell immunodeficiency-limb anomaly-urogenital malformation 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 B-cell immunodeficiency-limb anomaly-urogenital malformation 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 testing should we do to find the exact cause of this condition in our child?,How often does my child need immunoglobulin infusions, and can these be done at home?,What infections should we be most worried about, and when should we go to the emergency room?,Does my child need surgery for the limb or urogenital differences, and if so, when?,Are there any clinical trials or research studies we could participate in?,What specialists should be part of my child's care team, and how often should we see each one?,What should we tell the school or daycare about our child's condition and any special precautions needed?
Common questions about B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome
What is B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome?
B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome is a very rare genetic condition that affects several parts of the body at the same time. It is sometimes referred to by its Orphanet code ORPHA:567502. The condition involves three main areas of the body: the immune system, the limbs (arms and legs), and the urogenital system (the kidneys, bladder, and reproductive organs). People with this syndrome have a weakened immune system because their B-cells — a type of white blood cell that helps fight infections — do not work properly or are present in very low numbers. This mak
How is B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome inherited?
B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome typically begin?
Typical onset of B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome is neonatal. Age of onset can vary across affected individuals.