Living with 2q24 microdeletion syndrome
A chromosome condition that can bring seizures, eye differences, delayed development, and autism.
Understanding 2q24 microdeletion syndrome
Features depend on which region is deleted. They can include seizures, a smaller head, cleft palate, and eye differences such as coloboma, cataract, and small eyes. Slow growth, heart defects, limb differences, developmental delay, and autism can also occur. GARD lists onset as during pregnancy and as a newborn.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Global developmental delay
- Intellectual disability
- Cleft palate
- Clouding of the eye lens (cataract)
- Small eyeball (microphthalmia)
- Autistic behavior
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.
- 4Connect with expert centers
Dystonia Medical Research Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: Dystonia Medical Research Foundation
- 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 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. The summary describes it as a partial deletion of the long arm of chromosome 2.
Also known as: del(2)(q24); monosomy 2q24
Patient organizations
- Chromosome Disorder Outreach2q24 microdeletion syndrome · United States
- Dystonia Medical Research FoundationDystonia · United States
You are more than your diagnosis
Perspectives from people navigating life with 2q24 microdeletion syndrome.
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