Living with 12q15q21.1 microdeletion syndrome
A rare chromosome condition that can bring developmental delay, learning challenges, and slower growth.
Understanding 12q15q21.1 microdeletion syndrome
The features vary a lot from person to person. They typically include developmental delay, learning disability, and slower growth before and after birth. Mild facial differences may change with age. Nasal speech and low thyroid hormone (hypothyroidism) are also linked to it. GARD lists onset as the newborn and infant period.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet.
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 brain and nervous system 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
- Brain and nervous system specialists (neurologists); 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. It is a partial deletion of the long arm of chromosome 12 and is listed as autosomal dominant.
Also known as: del(12)(q15)(q21.1); deletion 12q15q21.1; monosomy 12q15q21.1
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 12q15q21.1 microdeletion syndrome.
Explore research for 12q15q21.1 microdeletion syndrome
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