Living with 8p23.1 microdeletion syndrome
A chromosome condition that can bring low birth weight, slow growth, mild learning challenges, hyperactivity, and heart differences.
Understanding 8p23.1 microdeletion syndrome
It is marked by low birth weight, slow growth after birth, mild intellectual disability, hyperactivity, and facial differences. Heart defects present from birth are common. GARD lists onset as the newborn and infant period.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Heart differences (such as atrioventricular canal defect)
- Global developmental delay
- Mild intellectual disability
- Attention deficit (ADHD)
- Slow growth
- Small head size (microcephaly)
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 and urinary and male reproductive system 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); Urinary and male reproductive system specialists (urologists)
- 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 Project 8p 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 changes in genes (also called variants) cause this condition. The summary describes it as a partial deletion of the short arm of chromosome 8.
Also known as: del(8)(p23.1); monosomy 8p23.1
Patient organizations
- Project 8p8p23.1 microdeletion syndrome · United States
- Chromosome Disorder OutreachChromosome disorders · United States
You are more than your diagnosis
Perspectives from people navigating life with 8p23.1 microdeletion syndrome.
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