Living with 3q26q27 microdeletion syndrome
A rare chromosome condition that can bring weak muscle tone, slow growth, feeding trouble, and delays in learning and development.
Understanding 3q26q27 microdeletion syndrome
It can cause weak muscle tone at birth, poor growth before and after birth, trouble feeding, and delays in learning and development. People may have late or crowded teeth, repeated lung infections, and low platelet counts. Facial features can include a flat face and a flat nose. Some have ADHD or autistic traits.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet. The summary describes these features:
- Weak muscle tone at birth
- Poor growth before and after birth
- Trouble feeding
- Delays in learning and development
- Repeated lung infections
- Low platelet counts
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
Your doctor may refer you to a specialist who knows rare conditions.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- A doctor familiar with rare conditions, plus specialists as needed
- 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 describes this as a small piece of genetic material missing from part of chromosome 3. It doesn't list a specific gene.
Also known as: 3q26-q27microdeletion syndrome; del(3)(q26q27); monosomy 3q26-q27; monosomy 3q26q27
Patient organizations
- Chromosome Disorder Outreach3q26q27 microdeletion syndrome · United States
You are more than your diagnosis
Perspectives from people navigating life with 3q26q27 microdeletion syndrome.
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