Living with 16p13.11 microdeletion syndrome
A genetic condition that can bring developmental delay, seizures, short height, and behavior concerns.
Understanding 16p13.11 microdeletion syndrome
People with this condition can have developmental delay, a smaller head size (microcephaly), and epilepsy. Short stature, distinct facial features, and behavior problems are also part of it. 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
- Delayed speech and language
- Small head size (microcephaly)
- Generalized seizures
- Short stature
- Specific learning disability
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 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 a missing piece of chromosome 16 and is listed as autosomal dominant.
Also known as: 16p13.11 recurrent microdeletion (neurocognitive disorder susceptibility locus); del(16)(p13.11); monosomy 16p13.11
Patient organizations
- Simons Searchlight16p13.11 microdeletion syndrome · United States
- Chromosome Disorder OutreachChromosome disorders · United States
You are more than your diagnosis
Perspectives from people navigating life with 16p13.11 microdeletion syndrome.
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