Living with Distal monosomy 7p
A rare chromosome condition that can affect learning, the heart, the hands and feet, and the shape of the skull.
Understanding Distal monosomy 7p
People with this condition often have delayed development and intellectual disability. Differences in the fingers and toes, heart, and urinary and genital systems may occur. Specific facial and skull features are common, including craniosynostosis, where the bones of the skull join too early. Signs begin during pregnancy or in the newborn period.
Signs & symptoms
GARD doesn't list common symptoms for this condition, but the summary describes these features:
- Delays in development
- Intellectual disability
- Differences in the fingers and toes
- Heart differences
- Urinary or genital differences
- Skull bones that join early (craniosynostosis)
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 the short arm of chromosome 7.
Also known as: distal deletion 7p; distal monosomy 7p syndrome; distal monosomy type 7p; monosomy 7pter; telomeric deletion 7p
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 7p.
Explore research for Distal monosomy 7p
Explore actively recruiting Distal monosomy 7p studies with HealthSpark.
Find actively recruiting studies for Distal monosomy 7p 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
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Distal monosomy 7p studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Distal monosomy 7p
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Distal monosomy 7p experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.