Living with Monosomy 9q22.3
A chromosome deletion linked to overgrowth, developmental delay, and Gorlin syndrome, which raises the chance of certain tumors.
Understanding Monosomy 9q22.3
About 20 percent of people with this deletion have overgrowth, meaning they are taller and heavier than peers, often starting before birth. Other features can include early fusion of skull bones, extra fluid in the brain, distinctive facial features, and delayed development. The deletion also causes Gorlin syndrome, which raises the chance of tumors, most often basal cell skin cancer and noncancerous jaw tumors.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Larger size at birth and overgrowth
- Delays in reaching developmental milestones
- Basal cell skin cancer
- Cleft in the mouth (orofacial cleft)
- Feeding difficulties
- Very flexible joints
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 eye disease specialists and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Eye disease specialists (ophthalmologists); 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
This condition results from a small deletion on chromosome 9 at position q22.3. GARD says changes in genes (also called variants) cause it.
Also known as: 9q22.3 deletion syndrome; 9q22.3 microdeletion; microdeletion 9q22.3; monosomy 9q22.3 syndrome
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 Monosomy 9q22.3.
Explore research for Monosomy 9q22.3
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