Living with Chromosome 14q11-q22 deletion syndrome
A rare condition from a missing piece of chromosome 14, with developmental delay, low muscle tone, and facial differences.
Understanding Chromosome 14q11-q22 deletion syndrome
GARD describes developmental delay, low muscle tone (hypotonia), and distinct facial features. It lists onset in the newborn period and infancy. Other listed features include mild intellectual disability and a hole in the wall between the heart's lower chambers.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Mild intellectual disability
- Broad forehead and deep-set eyes
- Flat nasal bridge
- Small lower jaw
- High palate
- Hole in the heart wall (ventricular septal defect)
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 cause this condition. It describes a missing piece (deletion) of chromosome 14 at 14q11.2.
Also known as: 14q11.2 microdeletion syndrome; chromosome 14q11-q22 deletion syndrome, isolated cases; del(14)(q11.2); monosomy 14q11.2
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 14q11-q22 deletion syndrome.
Explore research for Chromosome 14q11-q22 deletion syndrome
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