Living with 2q23.1 microduplication syndrome
A rare chromosome condition that can bring delayed development, low muscle tone, and autism-like behavior.
Understanding 2q23.1 microduplication syndrome
People with this condition have global developmental delay and low muscle tone (hypotonia). Autism-like behavior and other behavior differences are part of it. Facial features may be different, such as high eyebrows, wide-set eyes, and droopy eyelids. Some people have a friendly personality, and some have small differences in the fingers and toes. GARD lists onset as the newborn and infant period.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Global developmental delay
- Low muscle tone in infants (floppy infant)
- Autistic behavior
- Sleep disturbance
- Crossed eyes (strabismus)
- Droopy upper eyelids (ptosis)
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 and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); 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 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. The summary describes it as an extra piece of genetic material on chromosome 2.
Also known as: dup(2)(q23.1); trisomy 2q23.1
Patient organizations
- Simons Searchlight2q23.1 microduplication syndrome · United States
- Chromosome Disorder OutreachChromosome disorders · United States
You are more than your diagnosis
Perspectives from people navigating life with 2q23.1 microduplication syndrome.
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