Living with Nance-Horan syndrome
A rare genetic condition with cataracts and tooth differences from birth, and sometimes other eye and body differences.
Understanding Nance-Horan syndrome
It may be seen at birth. Other eye differences are common, including a very small cornea and eye movements that can't be controlled (nystagmus). Some people also have physical differences or intellectual disability. Symptoms can vary greatly, even within a family. Males often have more severe symptoms.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Cataracts (cloudy lenses)
- Very small corneas (microcornea)
- Eye movements that can't be controlled (nystagmus)
- Crossed eyes (strabismus)
- Tooth differences, such as extra teeth
- Vision loss
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, eye disease specialists, genetic specialists and gum, teeth and mouth specialists.
- 3Consider genetic testing
Changes in NHS are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists); Gum, teeth and mouth specialists (odontologists)
- 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 rare disease patient organizations for support
- 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
It is caused by a change in the NHS gene. It is X-linked dominant, which means both males and females can be affected, but males often have more severe symptoms.
Also known as: nance-horan syndrome, x-linked dominant; nhs
Patient organizations
Rare-disease groups that can help
- 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 Nance-Horan syndrome.
Explore research for Nance-Horan syndrome
Explore actively recruiting Nance-Horan syndrome studies with HealthSpark.
Find actively recruiting studies for Nance-Horan syndrome 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
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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