Living with Chromosome 9p deletion syndrome
A missing piece of the short arm of chromosome 9 that can cause developmental delay, low muscle tone, and heart or other differences.
Understanding Chromosome 9p deletion syndrome
How strong the signs are depends on the size and location of the deletion. Features can include developmental delay, low muscle tone, distinct facial features, heart conditions, scoliosis, and genital differences. In about half of cases the deletion occurs on its own. In the other half, a parent has the same deletion or a balanced translocation. GARD lists onset during pregnancy and at birth.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Developmental delay
- Low muscle tone (hypotonia)
- Small head size (microcephaly)
- Ambiguous genitalia
- Thumb placed close to the wrist
- Differences in ears and teeth
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 9p Minus Network and other patient organizations
- 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 it is caused by a missing piece (deletion) on the short arm of chromosome 9. About half of cases occur on their own, and in the others a parent has the deletion or a balanced translocation.
Also known as: 9p deletion; 9p deletion syndrome; 9p monosomy; 9p syndrome; 9p- syndrome; alfi syndrome
Patient organizations
- Chromosome 9p Minus NetworkChromosome 9p deletion syndrome · United States
- Chromosome Disorder OutreachChromosome disorders · United States
You are more than your diagnosis
Perspectives from people navigating life with Chromosome 9p deletion syndrome.
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