Living with 21q22.11q22.12 microdeletion syndrome
A rare chromosome condition that can bring slow growth, severe language delay, low platelets, and seizures.
Understanding 21q22.11q22.12 microdeletion syndrome
People with this condition grow more slowly before and after birth and have short stature. They have intellectual disability and developmental delay with severe language problems. A low platelet count (thrombocytopenia) can occur. Brain MRI differences, behavior problems, and seizures may be linked. GARD lists onset as the newborn and infant period.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Severe global developmental delay
- Absent speech
- Intellectual disability
- Seizures
- Low platelet count (thrombocytopenia)
- Short stature
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 blood and bone marrow specialists, brain and nervous system specialists, ear, nose, and throat specialists and genetic specialists.
- 3Consider genetic testing
Changes in KIF15 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
World Craniofacial Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Blood and bone marrow specialists (hematologists); Brain and nervous system specialists (neurologists); Ear, nose, and throat specialists (otolaryngologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: World Craniofacial Foundation
- 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 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
Changes in the KIF15 gene are listed. The summary describes it as a partial deletion of the long arm of chromosome 21.
Also known as: 21q22.11-q22.12 microdeletion syndrome; del(21)(q22.11q22.12); monosomy 21q22.11-q22.12; monosomy 21q22.11q22.12
Patient organizations
- Chromosome Disorder Outreach21q22.11q22.12 microdeletion syndrome · United States
- World Craniofacial FoundationCraniofacial anomalies · United States
- Children's Craniofacial AssociationCraniofacial anomalies · United States
- FACES: The National Craniofacial AssociationCraniofacial anomalies · United States
- myFaceCraniofacial anomalies · United States
You are more than your diagnosis
Perspectives from people navigating life with 21q22.11q22.12 microdeletion syndrome.
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