Living with Chromosome 16p12.2-p11.2 deletion syndrome
A rare condition from a missing piece of chromosome 16 that causes developmental delay and distinct facial features.
Understanding Chromosome 16p12.2-p11.2 deletion syndrome
GARD says the main features are developmental delay and differences in facial features. It lists onset in the newborn period and infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Delayed speech and language
- Differently shaped ears
- Deep-set eyes
- Eyelid openings that slant downward
- Long-lasting middle ear infections
- Acid reflux
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 it is caused by a missing piece (deletion) of chromosome 16 at p11.2-p12.2.
Also known as: 16p11.2-p12.2 microdeletion syndrome; 16p11.2p12.2 microdeletion syndrome; chromosome 16p12.2-p11.2 deletion syndrome, 7.1- to 8.7-mb; chromosome 16p12.2-p11.2 deletion syndrome, isolated cases; del(16)(p11.2p12.2); monosomy 16p11.2-p12.2
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 Chromosome 16p12.2-p11.2 deletion syndrome.
Explore research for Chromosome 16p12.2-p11.2 deletion syndrome
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