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Living with 6q16 deletion syndrome

A rare condition that looks like Prader-Willi syndrome, with obesity, strong appetite, low muscle tone, and delayed development.

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Understanding 6q16 deletion syndrome

6q16 deletion syndrome is a rare Prader-Willi-like syndrome caused by a missing piece of chromosome 6.

It brings obesity, a strong, constant appetite (hyperphagia), low muscle tone, small hands and feet, and eye or vision differences. People also have global developmental delay. GARD lists onset as during pregnancy, at birth, and as an infant.

Signs & symptoms

Symptoms vary from person to person. GARD lists these among the most common:

  • Obesity
  • Strong appetite (polyphagia)
  • Low muscle tone from birth
  • Poor suck in infancy
  • Global developmental delay
  • Crossed eyes (strabismus)

Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.

Diagnosis

  1. Talk with your doctor

    Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.

  2. See a specialist

    Specialists who may be involved include brain and nervous system specialists, genetic specialists, hormone specialists and maternal-fetal medicine specialists.

  3. Ask which tests can help

    Your care team will decide which exams and tests can confirm the diagnosis.

  4. Connect with expert centers

    Resolve: The National Infertility Association and Pituitary Network Association may keep lists of experts for this condition.

Care & treatment

Care team
Brain and nervous system specialists (neurologists); Genetic specialists (geneticists); Hormone specialists (endocrinologists); Maternal-fetal medicine specialists (pregnancy-related)
Expert care
Expert lists: Resolve: The National Infertility Association, Pituitary Network Association
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
Bring these questions to your next doctor visit
What can help us manage appetite and weight?
Should my child have an eye exam for vision differences?
What therapies help with muscle tone and speech?

Quick facts

Symptoms usually startduring Pregnancy, at Birth, and as an Infant

GARD says changes in genes (also called variants) cause this condition. The summary describes an interstitial deletion at 6q16.1q16.2.

GeneticNeurologicalEndocrineUrinary and Reproductive

Also known as: 6q16 microdeletion syndrome; del(6)(q16); monosomy 6q16; obesity due to 6q16 deletion; prader-willi-like syndrome due to deletion 6q16; prader-willi-like syndrome due to microdeletion 6q16

Patient organizations

Source: NIH GARD · 6q16 deletion syndromeGARD ID 20126 · GARD page updated September 2026 · Plain-language summary by Know Rare; editorial review pending. General information, not medical advice.

You are more than your diagnosis

Perspectives from people navigating life with 6q16 deletion syndrome.

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Explore research for 6q16 deletion syndrome

Explore actively recruiting 6q16 deletion syndrome studies with HealthSpark.

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Find actively recruiting studies for 6q16 deletion syndrome with HealthSpark. Share your city to explore research near you.

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  • Eligibility is confirmed by the study team

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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.

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