Overview
Axial spondylometaphyseal dysplasia is an extremely rare inherited bone disorder that primarily affects the spine (axial skeleton) and the growing ends of long bones (metaphyses). The condition belongs to a group of skeletal disorders called spondylometaphyseal dysplasias, which involve abnormal development of both the vertebrae in the spine and the metaphyseal regions of bones. People with this condition typically develop short stature, with a disproportionately short trunk compared to their limbs. The spine may show flattened vertebrae (platyspondyly), and the long bones may have widened or irregularly shaped ends. Some individuals also experience chest abnormalities, such as a narrow or barrel-shaped chest, which can sometimes affect breathing. Retinal changes or vision problems have been reported in some forms of this condition. Because this disease is so rare, the treatment approach is mainly supportive and symptom-based. There is no cure, and management focuses on monitoring bone growth, addressing orthopedic complications, supporting respiratory function if the chest is affected, and providing physical therapy to maintain mobility. Regular follow-up with specialists is important to track how the condition progresses over time.
Key symptoms:
Short stature with a short trunkFlattened vertebrae in the spineWidened or irregular ends of long bonesNarrow or abnormally shaped chestBowed legs or knock kneesWaddling gait or difficulty walkingRetinal pigment changes or vision problemsDelayed bone growthCurvature of the spine (scoliosis or kyphosis)Joint stiffness or limited range of motionBreathing difficulties due to chest shape
Clinical phenotype terms (47)— 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 Axial spondylometaphyseal dysplasia.
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Specialists
View all specialists →No specialists are currently listed for Axial spondylometaphyseal dysplasia.
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 Axial spondylometaphyseal dysplasia.
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 skeletal involvement, and what changes should I expect over time?,Are there any signs of chest or breathing problems that need to be monitored?,Should my child have regular eye exams, and how often?,What physical activities are safe, and are there any that should be avoided?,Is genetic testing recommended for other family members?,What specialists should be part of our care team, and how often should we see them?,Are there any clinical trials or research studies we could participate in?
Common questions about Axial spondylometaphyseal dysplasia
What is Axial spondylometaphyseal dysplasia?
Axial spondylometaphyseal dysplasia is an extremely rare inherited bone disorder that primarily affects the spine (axial skeleton) and the growing ends of long bones (metaphyses). The condition belongs to a group of skeletal disorders called spondylometaphyseal dysplasias, which involve abnormal development of both the vertebrae in the spine and the metaphyseal regions of bones. People with this condition typically develop short stature, with a disproportionately short trunk compared to their limbs. The spine may show flattened vertebrae (platyspondyly), and the long bones may have widened or
How is Axial spondylometaphyseal dysplasia inherited?
Axial spondylometaphyseal dysplasia follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Axial spondylometaphyseal dysplasia typically begin?
Typical onset of Axial spondylometaphyseal dysplasia is neonatal. Age of onset can vary across affected individuals.