Living with 8p11.2 deletion syndrome
A genetic condition that combines a red blood cell disorder, slow growth, facial differences, and low hormone levels from the gonads.
Understanding 8p11.2 deletion syndrome
It combines congenital spherocytosis (a red blood cell disorder), distinct features, slower growth, and hypogonadotropic hypogonadism (low sex hormones because of the pituitary and hypothalamus). Developmental delay and intellectual disability can occur. GARD lists onset as the newborn and infant period.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Hemolytic anemia from spherocytosis
- Low sex hormone activity (hypogonadotropic hypogonadism)
- Global developmental delay
- Intellectual disability
- Short stature
- 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.
- 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 (also called variants) cause this condition. It is a contiguous gene syndrome, a missing piece of chromosome 8 affecting several nearby genes.
Also known as: del(8)(p11.2); monosomy 8p11.2
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 8p11.2 deletion syndrome.
Explore research for 8p11.2 deletion syndrome
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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