Living with 5q14.3 microdeletion syndrome
A genetic condition that can bring severe learning challenges, absent speech, repetitive movements, and epilepsy.
Understanding 5q14.3 microdeletion syndrome
It is marked by severe intellectual disability, absent speech, repetitive (stereotypic) movements, and epilepsy. Facial features can include a high broad forehead, a short nose, a large open mouth, and prominent eyebrows. 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 intellectual disability
- Delayed or absent speech
- Seizures
- Repetitive movements
- Low muscle tone (hypotonia)
- Autistic behavior
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 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 affecting the MEF2C gene and deletions in the q14.3 region of chromosome 5 cause this condition.
Also known as: del(5)(q14.3); monosomy 5q14.3
Patient organizations
- Chromosome Disorder OutreachChromosome disorders · United States
- Epilepsy FoundationEpilepsy · United States
You are more than your diagnosis
Perspectives from people navigating life with 5q14.3 microdeletion syndrome.
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