Living with Metaphyseal undermodeling, spondylar dysplasia, and overgrowth
A rare bone condition with overgrowth before or after birth, spine and skull bone differences, and facial changes.
Understanding Metaphyseal undermodeling, spondylar dysplasia, and overgrowth
Children may grow taller or faster than usual. Skull bones can grow too much, spine bones can develop abnormally, and arm and leg bones can be underdeveloped. Facial differences include wide-set eyes, a flat nose bridge, and a full lower lip. Some have a curved spine, delayed puberty, undescended testicles, and an unusual opening of the urethra.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet, but its summary describes these:
- Taller or faster growth than usual
- Overgrowth of skull bones
- Spine bone differences
- Wide-set eyes and flat nose bridge
- Curved spine (scoliosis)
- Delayed puberty
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include bone and joint specialists and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with rare disease patient organizations for support
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in genes (also called variants) cause this condition. GARD does not name a specific gene.
Also known as: overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome; overgrowth, metaphyseal undermodeling, spondylar dysplasia syndrome
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Metaphyseal undermodeling, spondylar dysplasia, and overgrowth.
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