Overview
Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome is a very rare inherited condition that affects three major body systems at the same time: the bone marrow, the immune system, and the skeleton. Because of this, it is sometimes called a 'multi-system' syndrome. The bone marrow — the spongy tissue inside your bones that makes blood cells — does not work properly from birth, leading to a shortage of red blood cells, white blood cells, and platelets. This makes affected individuals prone to anemia, infections, and bleeding problems. At the same time, a specific type of immune cell called a B-cell, which normally helps fight infections by making antibodies, is either missing or not working well. This leaves the body poorly defended against bacteria and viruses. The skeleton is also affected, with abnormal bone growth and structure causing physical differences that can be seen on X-rays and sometimes noticed at birth or in early childhood. Symptoms can range from mild to severe and tend to get worse over time. Treatment focuses on managing each problem separately, including blood transfusions, immune support, and bone marrow transplant in some cases. There is currently no cure, but careful medical management can improve quality of life.
Also known as:
Key symptoms:
Low red blood cell count (anemia), causing tiredness and pale skinLow platelet count, leading to easy bruising and bleedingFrequent or severe infections due to a weak immune systemMissing or very low levels of B-cells (immune cells that make antibodies)Abnormal bone shape or structure (skeletal dysplasia)Short stature or slow growthBone marrow that stops making enough blood cells over timeSwollen lymph nodes or spleen in some casesDelayed development in some childrenIncreased risk of serious bacterial infections
Clinical phenotype terms (38)— hover any for plain English
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 Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome.
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Specialists
View all specialists →No specialists are currently listed for Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia 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 Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia 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.Has genetic testing been done to find the exact gene change causing this condition, and what does the result mean for our family?,Is my child a candidate for bone marrow transplant, and what are the risks and benefits in our specific situation?,How often should blood counts and immune function be checked, and what numbers should prompt an emergency visit?,What infections should we be most worried about, and what preventive treatments are recommended?,Are there any clinical trials or research studies we could join?,What specialists should be part of our care team, and how do we coordinate between them?,What support services — such as home nursing, school accommodations, or mental health support — are available to our family?
Common questions about Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome
What is Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome?
Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome is a very rare inherited condition that affects three major body systems at the same time: the bone marrow, the immune system, and the skeleton. Because of this, it is sometimes called a 'multi-system' syndrome. The bone marrow — the spongy tissue inside your bones that makes blood cells — does not work properly from birth, leading to a shortage of red blood cells, white blood cells, and platelets. This makes affected individuals prone to anemia, infections, and bleeding problems. At the same time, a
How is Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome inherited?
Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome typically begin?
Typical onset of Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome is neonatal. Age of onset can vary across affected individuals.