Living with Chromosome 10q23 deletion syndrome
A rare condition from a missing piece of chromosome 10, with mild facial differences, developmental delay, and behavior differences.
Understanding Chromosome 10q23 deletion syndrome
Features can include mild facial differences, cleft palate, brain (cerebellum) and heart differences, delayed development, and behavior differences such as ADHD and autism. Less common features include feeding difficulties and slow weight gain. GARD lists onset in the newborn period and infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Delayed development
- Intellectual disability
- Trouble with language
- Larger head size (macrocephaly)
- Wide-set eyes (hypertelorism)
- Low-set ears and a flat nasal bridge
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. The summary describes it as a missing piece (deletion) of chromosome 10 at 10q22.3q23.3.
Also known as: 10q22.3q23.3 microdeletion syndrome; chromosome 10q22.3-q23.2 deletion syndrome; del(10)(q22.3q23.3); deletion 10q22.3q23.3; monosomy 10q22.3q23.3
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 10q23 deletion syndrome.
Explore research for Chromosome 10q23 deletion syndrome
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