Living with Atypical Norrie disease due to monosomy Xp11.3
A rare condition caused by a missing piece of the X chromosome, with blindness from birth plus developmental and other differences.
Understanding Atypical Norrie disease due to monosomy Xp11.3
It has classic Norrie disease features: severe retinal malformations and lens clouding that cause blindness from birth, sometimes with progressive hearing loss and intellectual disability. It also includes a small head, low muscle tone, delays in movement and growth, and behavior challenges. Features vary and can include immune problems, epilepsy, and low sex hormone function. It is noticed in newborns.
Signs & symptoms
GARD doesn't list a symptom list for this condition, but its summary describes these features:
- Blindness from birth
- Cloudy lenses and retina differences
- Progressive hearing loss in some people
- Small head and low muscle tone
- Delayed movement and growth
- Moderate to severe intellectual disability
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 genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- 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
GARD says it results from the partial deletion (missing piece) of the short arm of the X chromosome, at a spot called Xp11.3.
Also known as: atypical norrie disease due to del(x)(p11.3); atypical norrie disease due to nullisomy xp11.3; atypical norrie disease due to xp11.3 microdeletion
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 Atypical Norrie disease due to monosomy Xp11.3.
Explore research for Atypical Norrie disease due to monosomy Xp11.3
Explore actively recruiting Atypical Norrie disease due to monosomy Xp11.3 studies with HealthSpark.
Find actively recruiting studies for Atypical Norrie disease due to monosomy Xp11.3 with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Atypical Norrie disease due to monosomy Xp11.3 studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Atypical Norrie disease due to monosomy Xp11.3
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Atypical Norrie disease due to monosomy Xp11.3 experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.