Living with Chromosome 17q11.2 deletion syndrome, 1.4Mb
A rare, more severe form of neurofibromatosis type 1 with many neurofibromas, developmental delay, and learning differences.
Understanding Chromosome 17q11.2 deletion syndrome, 1.4Mb
Features include mild facial differences, developmental delay, intellectual disability, a large number of neurofibromas (nerve growths), and an increased risk of cancers. GARD lists onset during pregnancy, at birth, and in infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Many neurofibromas (nerve growths)
- Developmental delay
- Intellectual disability
- Behavior differences
- Sleep problems
- Heart differences
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 bone and joint specialists, brain and nervous system specialists, cancer specialists and eye disease 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
- Bone and joint specialists (orthopedists or orthopedic surgeons); Brain and nervous system specialists (neurologists); Cancer specialists (oncologists); Eye disease specialists (ophthalmologists)
- 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 it is caused by a missing piece (deletion) of chromosome 17 at q11.2. It is listed as autosomal dominant.
Also known as: 17q11 deletion syndrome; 17q11 microdeletion syndrome; chromosome 17q11.2 deletion syndrome; chromosome 17q11.2 deletion syndrome, 1.4 mb; chromosome 17q11.2 deletion syndrome, 1.4-mb; del(17)(q11)
Patient organizations
- Chromosome Disorder OutreachChromosome 17q11.2 deletion syndrome, 1.4Mb · United States
- Epilepsy FoundationEpilepsy · United States
- National Kidney FoundationKidney diseases · United States
- Renal Support NetworkKidney diseases · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Chromosome 17q11.2 deletion syndrome, 1.4Mb.
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