Living with 6p22 microdeletion syndrome
A genetic condition that can bring developmental delay, distinct facial features, a short neck, and other body differences.
Understanding 6p22 microdeletion syndrome
It is linked with delayed development, distinct facial features, a short neck, and a range of other differences present from birth. Features vary widely. GARD lists onset as the newborn and infant period.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Mild intellectual disability
- Low muscle tone (hypotonia)
- Short neck
- Hydrocephalus (too much fluid in the brain)
- Heart difference (patent ductus arteriosus)
- Swollen kidney (hydronephrosis)
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 changes in genes (also called variants) cause this condition. The summary describes a missing piece (microdeletion) of chromosome 6.
Also known as: del(6)(p22); monosomy 6p22
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 6p22 microdeletion syndrome.
Explore research for 6p22 microdeletion syndrome
Explore actively recruiting 6p22 microdeletion syndrome studies with HealthSpark.
Find actively recruiting studies for 6p22 microdeletion syndrome with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
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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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