Living with 8q22.1 microdeletion syndrome
A rare chromosome condition with a mask-like face, stiff joints, mild developmental delay, and a happy disposition.
Understanding 8q22.1 microdeletion syndrome
It is marked by a mask-like facial appearance with narrow eye openings, tight, glistening facial skin, and a flat, broad nose. Other features include differently shaped ears, an unusual scalp hair pattern, bent fingers and toes, stiff joints, and unusual teeth. Developmental delay is mild, and people often have a happy disposition. Males may have undescended testes. GARD lists onset as the newborn and infant period.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Mask-like face
- Narrow, widely spaced eyes
- Limited joint movement
- Mild global developmental delay
- Conspicuously happy disposition
- 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 caused by a deletion at chromosome 8q22.1, and GARD lists autosomal dominant and recessive inheritance.
Also known as: chromosome 8q22.1 deletion syndrome; monosomy 8q22.1; nablus mask-like facial syndrome
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 8q22.1 microdeletion syndrome.
Explore research for 8q22.1 microdeletion syndrome
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