Living with 2q23.1 microdeletion syndrome
A rare chromosome condition that can bring seizures, learning and speech delays, sleep trouble, and behavior concerns.
Understanding 2q23.1 microdeletion syndrome
Symptoms may include seizures, moderate to severe learning problems, speech delays, behavior problems, trouble sleeping, and delayed milestones. Children may also have low muscle tone (hypotonia), slow weight gain, and be shorter than family members. Most cases are de novo, meaning the deletion was not passed down from a parent. Genetic testing confirms the diagnosis. GARD lists onset as the newborn and infant period.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Delayed speech and language
- Low muscle tone (hypotonia)
- Severe intellectual disability
- Sleep disturbance
- Small head size (microcephaly)
- Hyperactivity
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, genetic specialists and seizure and epilepsy specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
Epilepsy Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists); Seizure and epilepsy specialists (epileptologist)
- Expert care
- Expert lists: Epilepsy 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 Simons Searchlight 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
GARD says changes in genes (also called variants) cause this condition. It is caused by the loss of a small piece of DNA in one copy of chromosome 2, and most cases are not passed down from a parent.
Also known as: del(2)(q23.1); monosomy 2q23.1; pseudo-angelman syndrome
Patient organizations
- Simons Searchlight2q23.1 microdeletion syndrome · United States
- Chromosome Disorder OutreachChromosome disorders · United States
- Epilepsy FoundationEpilepsy · United States
You are more than your diagnosis
Perspectives from people navigating life with 2q23.1 microdeletion syndrome.
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