Living with Chromosome 13q14 deletion syndrome
A rare chromosome condition with developmental delay, distinct facial features, and an eye tumor called retinoblastoma.
Understanding Chromosome 13q14 deletion syndrome
Features include developmental delay, intellectual disability of varying degree, retinoblastoma (an eye tumor), and distinct facial features. Other features reported include high birth weight, larger head size, enlarged liver, hernia in the groin, and undescended testes. GARD lists onset in the newborn period and infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Intellectual disability
- Low muscle tone (hypotonia)
- Retinoblastoma (eye tumor)
- Small head size (microcephaly)
- Eye differences, such as small eyes or cataract
- Small lower jaw and low-set ears
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
GARD says it results from a partial deletion of the long arm of chromosome 13. It is listed as autosomal dominant.
Also known as: chromosome 13q14 deletion syndrome, isolated cases; del(13)(q14); del(13q14); deletion 13q14; monosomy 13q14; monosomy type 13q14
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 13q14 deletion syndrome.
Explore research for Chromosome 13q14 deletion syndrome
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