Living with 15q overgrowth syndrome
A rare chromosome condition that can bring faster growth, distinct facial features, kidney differences, and learning challenges.
Understanding 15q overgrowth syndrome
People with this condition grow faster than usual before and after birth. They have distinct facial features, and may have kidney differences such as horseshoe kidney. Learning difficulties range from mild to severe, and behavior differences can occur. Some have an early-closing skull seam (craniosynostosis) or a larger head. GARD lists onset as during pregnancy, at birth, and as an infant.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- General overgrowth
- Disproportionately tall stature
- Distinct facial shape
- Kidney differences (horseshoe kidney)
- Early-closing skull seams (craniosynostosis)
- Very flexible joints (joint hypermobility)
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 brain and nervous system specialists, eye disease specialists, genetic specialists and hormone specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists); Hormone specialists (endocrinologists)
- 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
GARD says changes in genes (also called variants) cause this condition. The summary describes extra genetic material on chromosome 15.
Also known as: 15q26 overgrowth syndrome
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 15q overgrowth syndrome.
Explore research for 15q overgrowth syndrome
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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