Living with Distal 17p13.3 microdeletion syndrome
A rare chromosome condition that can affect growth, learning, head size, and the brain's structure.
Understanding Distal 17p13.3 microdeletion syndrome
The condition varies a lot from person to person. It can include slower growth before and after birth, delays in development, and mild learning difficulties. People may have a larger than average head and mild facial differences, such as a prominent forehead and widely spaced eyes. Brain scans may show differences in the brain's structure. Signs can begin during pregnancy, at birth, or in infancy.
Signs & symptoms
GARD doesn't list specific symptoms for this condition separately, but the summary describes these features:
- Slow growth before and after birth
- Delays in development
- Mild intellectual disability
- Larger than average head (macrocephaly)
- Prominent forehead and wide-set eyes
- Differences in brain structure on scans
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 (monosomy) of the short arm of chromosome 17.
Also known as: distal del(17)(p13.3 ); distal del(17)(p13.3); distal monosomy 17p13.3
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 17p13.3 microdeletion syndrome.
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