Overview
Spondylometaphyseal dysplasia with combined immunodeficiency (SMD-CID) is a very rare genetic condition that affects two major body systems at the same time: the skeleton and the immune system. 'Spondylometaphyseal dysplasia' refers to abnormal bone development, particularly in the spine (spondylo-) and in the wider, flared ends of long bones called the metaphyses. This causes short stature, spine problems, and bone fragility from early in life. At the same time, the 'combined immunodeficiency' part means the body's immune system does not work properly, leaving affected individuals highly vulnerable to serious and repeated infections. Children with this condition are typically identified in infancy or early childhood because of their unusually short limbs, spine curvature, and frequent severe infections. The immune deficiency involves both the T-cell and B-cell arms of the immune system, which are the key soldiers the body uses to fight bacteria, viruses, and fungi. Without these working correctly, even common childhood illnesses can become life-threatening. Treatment focuses on managing infections with antibiotics and antifungal medicines, replacing missing immune proteins (immunoglobulin therapy), and in some cases pursuing bone marrow transplantation to correct the immune deficiency. Orthopedic care is also needed to manage bone and spine problems. There is currently no cure that addresses both the skeletal and immune aspects together, making this a challenging condition requiring a team of specialists.
Key symptoms:
Very short stature due to abnormal bone growthShort arms and legs (short-limbed dwarfism)Spine curvature or abnormal spine shape (scoliosis or kyphosis)Flared or irregular ends of long bones visible on X-rayFrequent and severe bacterial, viral, or fungal infectionsRecurrent pneumonia or lung infectionsFailure to thrive or poor weight gain in infancyLow levels of infection-fighting white blood cells (lymphopenia)Reduced or absent immune antibodiesDelayed motor development (sitting, standing, walking later than expected)Joint stiffness or limited range of motion
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Infantile
Begins in infancy, roughly 1 month to 2 years old
Treatments
No FDA-approved treatments are currently listed for Spondylometaphyseal dysplasia with combined immunodeficiency.
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Specialists
View all specialists →No specialists are currently listed for Spondylometaphyseal dysplasia with combined immunodeficiency.
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 Spondylometaphyseal dysplasia with combined immunodeficiency.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
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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.Which gene mutation does my child have, and what does that mean for their specific prognosis?,Is my child a candidate for bone marrow transplantation, and what are the risks and benefits?,What infections should I be most worried about, and what is the emergency plan if my child gets sick?,How often does my child need IVIG infusions, and can these be done at home?,What bone or spine problems should I expect as my child grows, and how will they be managed?,Are there any clinical trials or research studies we should consider joining?,Should other family members be tested to see if they are carriers of this gene change?
Common questions about Spondylometaphyseal dysplasia with combined immunodeficiency
What is Spondylometaphyseal dysplasia with combined immunodeficiency?
Spondylometaphyseal dysplasia with combined immunodeficiency (SMD-CID) is a very rare genetic condition that affects two major body systems at the same time: the skeleton and the immune system. 'Spondylometaphyseal dysplasia' refers to abnormal bone development, particularly in the spine (spondylo-) and in the wider, flared ends of long bones called the metaphyses. This causes short stature, spine problems, and bone fragility from early in life. At the same time, the 'combined immunodeficiency' part means the body's immune system does not work properly, leaving affected individuals highly vuln
How is Spondylometaphyseal dysplasia with combined immunodeficiency inherited?
Spondylometaphyseal dysplasia with combined immunodeficiency follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Spondylometaphyseal dysplasia with combined immunodeficiency typically begin?
Typical onset of Spondylometaphyseal dysplasia with combined immunodeficiency is infantile. Age of onset can vary across affected individuals.