Living with 16q24.3 microdeletion syndrome
A chromosome condition that can bring developmental delay, seizures, autism, and distinct facial features.
Understanding 16q24.3 microdeletion syndrome
It can affect many parts of the body. Signs may include developmental delay, distinct facial features, seizures, and autism spectrum disorder. In most cases, parents do not have a chromosome difference. Sometimes one parent has a balanced translocation, which is a swapped piece between chromosomes with nothing gained or lost. GARD lists onset as the newborn and infant period.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Seizures
- Autism
- Moderate intellectual disability
- Brain differences (ventriculomegaly, corpus callosum)
- Optic nerve underdevelopment
- Distinct facial features
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 genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- 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
GARD says changes in genes (also called variants) cause this condition. Chromosome testing of both parents can show whether the deletion was inherited, for example through a balanced translocation.
Also known as: del(16)(q24.3); monosomy 16q24.3
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 16q24.3 microdeletion syndrome.
Explore research for 16q24.3 microdeletion syndrome
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