Overview
Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome is a very rare genetic condition that affects bone growth and the overall size of the body. The name describes its three main features: overgrowth (the body grows larger than expected), metaphyseal undermodeling (the wide parts of long bones near the growth plates do not shape themselves properly during development), and spondylar dysplasia (abnormal development of the bones of the spine, called vertebrae). This condition is sometimes referred to by its Orphanet code ORPHA:498485 and falls under the broader ICD-10 category of congenital malformation syndromes associated with overgrowth. People with this syndrome typically show signs from early in life, including being larger than average in height and body size, along with bones that look unusual on X-ray. The spine may have structural differences that can cause pain or posture problems. Because this condition is extremely rare, the full range of symptoms and how they change over time is still being studied. There is currently no cure, and treatment focuses on managing individual symptoms, supporting bone health, and monitoring for complications through regular specialist care.
Key symptoms:
Larger than average body size and height (overgrowth)Abnormally shaped bones near the growth plates of long bonesSpine bone abnormalities (spondylar dysplasia)Unusual bone appearance on X-rayPossible back pain or posture problems due to spine changesBroad or widened ends of long bones (arms and legs)Possible joint stiffness or reduced range of motion
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Infantile
Begins in infancy, roughly 1 month to 2 years old
Treatments
No FDA-approved treatments are currently listed for Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome.
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Specialists
View all specialists →No specialists are currently listed for Overgrowth-metaphyseal undermodeling-spondylar 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 Overgrowth-metaphyseal undermodeling-spondylar 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.What genetic testing do you recommend to confirm the diagnosis and identify the specific gene involved?,How often should my child have X-rays or other imaging to monitor bone and spine changes?,What signs of spinal cord compression should I watch for, and when should I go to the emergency room?,Are there any physical activities my child should avoid because of their bone or spine differences?,Should other family members be tested for this condition?,Are there any clinical trials or research studies we could participate in?,What specialists should be part of our care team, and how often should we see each one?
Common questions about Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome
What is Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome?
Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome is a very rare genetic condition that affects bone growth and the overall size of the body. The name describes its three main features: overgrowth (the body grows larger than expected), metaphyseal undermodeling (the wide parts of long bones near the growth plates do not shape themselves properly during development), and spondylar dysplasia (abnormal development of the bones of the spine, called vertebrae). This condition is sometimes referred to by its Orphanet code ORPHA:498485 and falls under the broader ICD-10 category of co
How is Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome inherited?
Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome typically begin?
Typical onset of Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome is infantile. Age of onset can vary across affected individuals.