Living with Tetrasomy 9p
A rare chromosome condition that can affect growth, learning, the face, the heart, and the kidneys.
Understanding Tetrasomy 9p
People often have low muscle tone, a small head, mild to moderate intellectual disability, and differences in the face. Some have cleft lip or palate, heart defects, or kidney and genital differences.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Global developmental delay
- Delayed speech and language
- Wide-set eyes (hypertelorism)
- Beaked nose and small lower jaw
- Crossed eyes (strabismus) or nearsightedness
- Deeply set eyes
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 genes (variants) cause this condition, but it doesn't name a specific gene. It is a chromosomal condition.
Also known as: chromosome 9, tetrasomy 9p; isochromosome 9p; tetrasomy of short arm of chromosome 9; tetrasomy type 9p
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 Tetrasomy 9p.
Explore research for Tetrasomy 9p
Explore actively recruiting Tetrasomy 9p studies with HealthSpark.
Find actively recruiting studies for Tetrasomy 9p 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
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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