Living with 9q33.3q34.11 microdeletion syndrome
A rare chromosome condition that can bring learning challenges, delayed speech, short height, epilepsy, and nosebleeds.
Understanding 9q33.3q34.11 microdeletion syndrome
It is marked by intellectual disability, developmental delay with strong speech delay, short stature, and low muscle tone. Epilepsy, poor balance (ataxia), early-onset dystonia, nail differences, and bone differences, especially in the kneecap, can occur. Nosebleeds and small clusters of blood vessels in the skin and mouth (telangiectasias) are also seen. GARD lists onset as infant and child.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Severe intellectual disability
- Delayed speech and language
- Small head size (microcephaly)
- Nosebleeds (epistaxis)
- Dislocated kneecap
- Crossed eyes (strabismus)
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, seizure and epilepsy specialists and skin, hair, and nail 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); Skin, hair, and nail specialists (dermatologists)
- 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
GARD says changes in genes (also called variants) cause this condition. The summary describes it as a partial loss (monosomy) of the long arm of chromosome 9.
Also known as: 9q33.3-q34.11 microdeletion syndrome; del(9)(q33.3q34.11); deletion 9q33.3q34.11; monosomy 9q33.3-q34.11; monosomy 9q33.3q34.11
Patient organizations
- Chromosome Disorder Outreach9q33.3q34.11 microdeletion syndrome · United States
- Epilepsy FoundationEpilepsy · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with 9q33.3q34.11 microdeletion syndrome.
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