Living with Chromosome 19p13.13 deletion syndrome
A small missing piece of chromosome 19 that can cause a large head, tall stature, learning difficulties, and delayed speech and movement.
Understanding Chromosome 19p13.13 deletion syndrome
Common features are a large head size (macrocephaly), tall stature, and intellectual disability that is usually moderate. Many people have significant developmental delay, including speech, and children may speak few or no words. Low muscle tone and poor coordination (ataxia) slow motor skills. Seizures, brain structure differences, feeding and digestion problems, and eye problems can occur.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Global developmental delay
- Larger head size (macrocephaly)
- Attention deficit (ADHD)
- Crossed eyes (strabismus)
- Digestive problems
- Funnel chest (pectus excavatum)
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 it is caused by a small missing piece (deletion) of chromosome 19 at p13.13.
Also known as: 19p13.13 microdeletion syndrome; del(19)(p13.13); monosomy 19p13.13
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 19p13.13 deletion syndrome.
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