Living with Monosomy 22
A rare chromosome condition with short height, joint differences, heart defects, and distinctive facial features.
Understanding Monosomy 22
It is typically marked by short height, joint differences such as very flexible or dislocated joints, heart defects present from birth, and certain facial features. Delayed motor development and intellectual disability may also be seen. Signs are seen in the newborn period.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Intellectual disability
- Flat face with a high forehead
- Eye folds (epicanthus)
- Receding chin and short neck
- Ears rotated toward the back of the head
- Long groove above the upper lip (philtrum)
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 chromosome anomaly in which genetic material from chromosome 22 is missing.
Also known as: del(22); deletion 22; monosomy 22 syndrome; monosomy type 22
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 Monosomy 22.
Explore research for Monosomy 22
Explore actively recruiting Monosomy 22 studies with HealthSpark.
Find actively recruiting studies for Monosomy 22 with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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