Living with Distal monosomy 19p13.3
A rare chromosome condition with a wide range of effects, including slow growth, delayed development, and differences in the heart, ears, and face.
Understanding Distal monosomy 19p13.3
How it affects a person depends on the size of the missing piece. Features can include slow growth before birth and poor weight gain, delayed development, and distinct facial features. Birth differences may affect the heart, digestive system, kidneys, and brain. Hearing loss, vision problems, and immune problems have also been reported. Signs begin during pregnancy or at birth.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Delays in overall development
- Intellectual disability
- Cleft palate
- Hearing loss
- Hole in the heart wall (ventricular septal defect)
- Low muscle tone (hypotonia)
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 genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- 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 a person's genes cause this condition. The summary describes it as a partial loss of part of chromosome 19.
Also known as: distal deletion 19p; telomeric deletion 19p
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 Distal monosomy 19p13.3.
Explore research for Distal monosomy 19p13.3
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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