Living with 13q12.3 microdeletion syndrome
A rare chromosome condition that can bring speech delay, learning challenges, eczema, and less feeling of pain.
Understanding 13q12.3 microdeletion syndrome
People with this condition have moderate intellectual disability and speech delay. Head growth may slow after birth. Eczema (atopic dermatitis), distinct facial features, and reduced sensitivity to pain are also part of it. GARD lists onset as newborn.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Delayed speech and language
- Moderate intellectual disability
- Eczema (atopic dermatitis)
- Reduced sensitivity to pain
- Short stature
- Recurrent respiratory infections
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, genetic specialists and skin, hair, and nail 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); Skin, hair, and nail specialists (dermatologists)
- 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 and other patient organizations
- 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 it as a chromosome change.
Also known as: del(13)(q12.3); monosomy 13q12.3
Patient organizations
- Chromosome Disorder Outreach13q12.3 microdeletion syndrome · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with 13q12.3 microdeletion syndrome.
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