Living with Chromosome 8q21.11 deletion syndrome
A small missing piece of chromosome 8 with intellectual disability, a round face, droopy eyelids, and nasal speech.
Understanding Chromosome 8q21.11 deletion syndrome
Facial features include a round face, droopy eyelids, a short philtrum, a prominent Cupid's bow, and prominent low-set ears. People may also have nasal speech and mild finger and toe differences. GARD lists onset in the newborn period and infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Intellectual disability
- Drooping upper eyelids (ptosis)
- Crossed eyes (strabismus)
- Downturned corners of the mouth
- Downward-slanting eyelid openings
- Cloudy cornea
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 brain and nervous system specialists and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); 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 it is caused by a small missing piece (deletion) of chromosome 8 at q21.11. It is listed as autosomal dominant.
Also known as: 8q21.11 microdeletion syndrome; chromosome 8q21.11 deletion syndrome, isolated cases; del(8)(q21.11); deletion 8q21.11; monosomy 8q21.11
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 Chromosome 8q21.11 deletion syndrome.
Explore research for Chromosome 8q21.11 deletion syndrome
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