Living with Overgrowth syndrome with 2q37 translocation
A rare condition with a long, slim body and many bone and joint differences, often noticed in newborns and infants.
Understanding Overgrowth syndrome with 2q37 translocation
People with this condition have a long, slim body build and several bone differences. These include curved spine (scoliosis), large big toes, and long, thin fingers and toes. Signs are usually noticed in the newborn and infant period. Some people also have a widened aorta (the main blood vessel from the heart) and a belly-button hernia.
Signs & symptoms
Symptoms vary from person to person. GARD describes these features:
- Long, slim body build
- Curved spine (scoliosis)
- Large big toes (macrodactyly)
- Long, thin fingers and toes (arachnodactyly)
- Feet that gradually turn outward (valgus deformity)
- Bowed lower leg bones (tibiae)
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 Chromosome Disorder Outreach
- 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 the genes (also called variants) cause this condition. GARD doesn't list a specific gene.
Patient organizations
- Chromosome Disorder OutreachChromosome disorders · United States
Broader rare-disease groups
- 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 Overgrowth syndrome with 2q37 translocation.
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