Living with Distal monosomy 17q
A rare chromosome condition with low muscle tone, delayed development, seizures, and differences in the hands, feet, and heart.
Understanding Distal monosomy 17q
People with this condition often have low muscle tone, slow growth, and significant delays in development. A small head, seizures, and heart differences may occur. Hand and foot differences such as joined fingers or toes can also be present, along with distinct facial features like a round face and widely spaced eyes. Signs begin during pregnancy or in the newborn period.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Small head size (microcephaly)
- Heart wall (septum) differences
- Missing or small thumb
- Differences in finger shape or position
- Optic atrophy (damage to the eye nerve)
- Enlarged liver (hepatomegaly)
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. It is a partial loss of the long arm of chromosome 17, and reported deletions involve regions 17q21 to q24.
Also known as: distal 17q deletion; distal monosomy type 17q; monosomy 17qter; telomeric deletion 17q
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 17q.
Explore research for Distal monosomy 17q
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- Recruiting studies from ClinicalTrials.gov
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