Living with 3q27.3 microdeletion syndrome
A rare chromosome condition that can bring learning challenges, mental health symptoms, and distinct facial features.
Understanding 3q27.3 microdeletion syndrome
It brings mild to severe intellectual disability and mental health conditions such as psychotic and low-mood (dysthymic) symptoms. Mild distinct facial features may include a slender face, deep-set eyes, a hooked nose, and a small mouth. It also includes a marfanoid habitus, meaning a tall, slender body build.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet. The summary describes these features:
- Intellectual disability
- Psychotic symptoms
- Low mood (dysthymia)
- Slender face and deep-set eyes
- Hooked nose with high nasal bridge
- Tall, slender build (marfanoid habitus)
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 says it is a partial deletion of the long arm of chromosome 3. It doesn't list a specific gene.
Also known as: del(3)(q27.3)
Patient organizations
- Chromosome Disorder Outreach3q27.3 microdeletion syndrome · United States
You are more than your diagnosis
Perspectives from people navigating life with 3q27.3 microdeletion syndrome.
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