Living with Distal 16p11.2 microdeletion syndrome
A chromosome condition with developmental delay, mild intellectual disability, and autism spectrum disorder, with a wide range of effects.
Understanding Distal 16p11.2 microdeletion syndrome
It has a highly variable picture. It typically includes developmental delay, mild intellectual disability, and autism spectrum disorder. A larger head (by age 2), brain structure differences, epilepsy, spine differences, and obesity are often linked. GARD lists onset during pregnancy, at birth, or in infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Delayed speech and language
- Autistic behavior
- Attention deficit hyperactivity disorder (ADHD)
- Chronic constipation
- Kidney differences
- Retinal dystrophy (eye disease)
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 and hormone 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); Hormone specialists (endocrinologists)
- 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 partial deletion of the short arm of chromosome 16 at 16p11.2. GARD lists autosomal dominant inheritance.
Also known as: body mass index qtl16; body mass index quantitative trait locus 16; chromosome 16p11.2 deletion syndrome, 220 kb; chromosome 16p11.2 deletion syndrome, type 220kb; distal del(16)(p11.2); distal monosomy 16p11.2
Patient organizations
- Simons SearchlightDistal 16p11.2 microdeletion syndrome · United States
- Chromosome Disorder OutreachChromosome disorders · United States
You are more than your diagnosis
Perspectives from people navigating life with Distal 16p11.2 microdeletion syndrome.
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