Living with Proximal 16p11.2 microdeletion syndrome
A chromosome condition that often brings developmental delay, speech and language delay, and features of autism.
Understanding Proximal 16p11.2 microdeletion syndrome
People usually have developmental delay and intellectual disability, and most have some features of autism spectrum disorder. Speaking is usually harder than understanding speech. Some have seizures, and the risk of obesity is higher. Symptoms vary, even within a family, and some people with the deletion have no noticeable differences. GARD lists onset in childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Delays in development
- Intellectual disability
- Autism features
- Delayed speech and language
- Attention problems (ADHD)
- Larger head size (macrocephaly)
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
It is caused by a deletion of a small piece of chromosome 16 at a spot called p11.2. GARD lists autosomal dominant inheritance.
Also known as: 16p11.2 microdeletion; autism susceptibility 14a; chromosome 16p11.2 deletion syndrome; chromosome 16p11.2 deletion syndrome, 593-kb; chromosome 16p11.2 deletion syndrome, 593kb; proximal del(16)(p11.2)
Patient organizations
- Simons SearchlightProximal 16p11.2 microdeletion syndrome · United States
- Chromosome Disorder OutreachChromosome disorders · United States
You are more than your diagnosis
Perspectives from people navigating life with Proximal 16p11.2 microdeletion syndrome.
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