Overview
Regressive spondylometaphyseal dysplasia is an extremely rare genetic bone disorder that affects the spine and the ends of long bones (called metaphyses). The term 'regressive' refers to the fact that some skeletal features may appear to worsen or change over time, particularly during early childhood. Children with this condition typically show abnormalities in the shape and growth of their vertebrae (the bones of the spine) and in the growth plates near the ends of long bones in the arms and legs. This can lead to short stature, skeletal deformities, and problems with movement and mobility. Key symptoms may include disproportionate short stature, abnormal curvature of the spine, bowing of the legs, joint stiffness, and waddling gait. Some children may also experience pain in their bones or joints. The severity of the condition can vary from person to person. Because this is such a rare condition, the full range of symptoms and long-term outcomes is still being studied. There is currently no cure for regressive spondylometaphyseal dysplasia. Treatment focuses on managing symptoms and supporting the best possible quality of life. This may include orthopedic interventions, physical therapy, pain management, and regular monitoring of skeletal growth. A team of specialists is usually needed to provide comprehensive care.
Key symptoms:
Short statureAbnormal spine shape or curvatureBowing of the legsJoint stiffness or limited range of motionWaddling walkBone or joint painFlattened vertebrae in the spineWidened or irregular growth plates in long bonesDifficulty with physical activitiesProgressive skeletal changes during childhood
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 Regressive spondylometaphyseal dysplasia.
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Specialists
View all specialists →No specialists are currently listed for Regressive 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 Regressive 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.What specific skeletal changes does my child have, and how might they progress over time?,Is genetic testing available to confirm the diagnosis, and should other family members be tested?,What orthopedic treatments or surgeries might be needed in the future?,How often should my child have skeletal imaging or other monitoring?,What physical therapy or exercises are recommended to support mobility?,Are there any warning signs of spinal cord compression I should watch for?,Are there any clinical trials or research studies my child could participate in?
Common questions about Regressive spondylometaphyseal dysplasia
What is Regressive spondylometaphyseal dysplasia?
Regressive spondylometaphyseal dysplasia is an extremely rare genetic bone disorder that affects the spine and the ends of long bones (called metaphyses). The term 'regressive' refers to the fact that some skeletal features may appear to worsen or change over time, particularly during early childhood. Children with this condition typically show abnormalities in the shape and growth of their vertebrae (the bones of the spine) and in the growth plates near the ends of long bones in the arms and legs. This can lead to short stature, skeletal deformities, and problems with movement and mobility.
How is Regressive spondylometaphyseal dysplasia inherited?
Regressive spondylometaphyseal dysplasia follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Regressive spondylometaphyseal dysplasia typically begin?
Typical onset of Regressive spondylometaphyseal dysplasia is infantile. Age of onset can vary across affected individuals.