Living with 17q11.2 microduplication syndrome
A genetic condition that can bring developmental delay, learning challenges, short height, and tooth enamel differences.
Understanding 17q11.2 microduplication syndrome
People with this condition have distinct physical features and intellectual disability. GARD lists global developmental delay, short stature, and a smaller head size among the common signs. Tooth enamel may be abnormal or underdeveloped. GARD lists onset as the newborn and infant period.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Global developmental delay
- Intellectual disability
- Short stature
- Small head size (microcephaly)
- Abnormal tooth enamel
- Underdeveloped tooth enamel (enamel hypoplasia)
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 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
- Brain and nervous system specialists (neurologists); 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 Simons Searchlight and other patient organizations
- 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. It is listed as autosomal dominant.
Also known as: chromosome 17q11.2 duplication syndrome, 1.4-mb; dup(17)(q11.2); grisart destree syndrome; grisart-destree syndrome; grisart-destrée syndrome; nf1 microduplication syndrome
Patient organizations
- Simons Searchlight17q11.2 microduplication syndrome · United States
- Chromosome Disorder OutreachChromosome disorders · United States
You are more than your diagnosis
Perspectives from people navigating life with 17q11.2 microduplication syndrome.
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