Living with Monosomy 13q34
A rare chromosome condition with developmental delay, mild intellectual disability, weight gain, and mild facial differences.
Understanding Monosomy 13q34
It is mainly marked by global developmental delay, mild intellectual disability, obesity, and mild differences in facial features. Other features vary and can include heart defects present from birth, extra fingers or toes, and a missing corpus callosum (the bridge between the two sides of the brain). Signs are seen during pregnancy or in the newborn period.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Delays in reaching developmental milestones
- Mild intellectual disability
- Obesity
- Smaller-than-average head size (microcephaly)
- Broad forehead and prominent nose
- Eyes set widely apart
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
This condition results from a partial deletion of the long arm of chromosome 13. GARD says changes in genes (also called variants) cause it.
Also known as: del(13)(q34); distal deletion 13q34; monosomy 13q34 syndrome; monosomy type 13q34; subtelomeric deletion 13q34
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 Monosomy 13q34.
Explore research for Monosomy 13q34
Explore actively recruiting Monosomy 13q34 studies with HealthSpark.
Find actively recruiting studies for Monosomy 13q34 with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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