Living with Distal 17p13.1 microdeletion syndrome
A rare chromosome condition that affects development, speech, growth, and facial features, starting in infancy.
Understanding Distal 17p13.1 microdeletion syndrome
People with this condition often have mild delays in development and learning, and may speak very little or not at all. They may have a small head, poor weight gain, and a wide-based walk. Distinct facial features can include a long midface, a receding chin with an overbite, and ears that stick out. Signs can show up in the newborn and infant years.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Delays in overall development
- Delays in motor skills (movement)
- Small head size (microcephaly)
- Low muscle tone in infants (floppy infant)
- Trouble with balance
- Receding chin with an overbite
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 changes in a person's genes cause this condition. The summary describes it as a missing piece (deletion) of chromosome 17.
Also known as: distal del(17)(p13.1)
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 17p13.1 microdeletion syndrome.
Explore research for Distal 17p13.1 microdeletion syndrome
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