Living with Microtriplication 11q24.1
An extremely rare chromosome condition with intellectual disability, short stature, an eye condition called keratoconus, and distinctive facial features.
Understanding Microtriplication 11q24.1
People have intellectual disability with severe difficulty in speaking, and short stature with small hands and feet. Many have keratoconus, a bulging of the cornea. They also share distinctive facial features, and may be overweight and have high cholesterol. Signs are noted in childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Intellectual disability
- Delayed speech and language development
- Bulging of the cornea (keratoconus)
- Low muscle tone throughout the body
- Hearing impairment
- Smaller-than-average head size (microcephaly)
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 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
This condition results from an extra copy of part of the long arm of chromosome 11. GARD says changes in genes (also called variants) cause it.
Also known as: tetrasomy 11q24.1
Patient organizations
- Chromosome Disorder OutreachChromosome disorders · United States
Broader rare-disease groups
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Microtriplication 11q24.1.
Explore research for Microtriplication 11q24.1
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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