In affected males, the primary physical characteristic is the presence of dense clouding of the lens (cornea) of both eyes at birth (congenital bilateral cataracts). The cataracts usually result in blurred vision and severely decreased clearness or clarity of vision (visual acuity). Vision loss can potentially be profound. Males with Nance-Horan syndrome may have additional eye abnormalities, including a very small cornea (microcornea); involuntary movements of the eyes (
Males with Nance-Horan syndrome may also have several dental abnormalities such as unusually shaped, extra (supernumerary) teeth, absence of some teeth (dental agenesis), impacted teeth or unusually wide spaces (diastema) between some of the teeth. The front teeth, or incisors, are usually tapered and 'screwdriver-shaped'. The teeth in the back of the mouth may be cone-shaped, rounded, or cylindrical.
In many males with Nance-Horan syndrome, other physical findings may also occur. Distinctive facial features may be present, but may be subtle. The ears may be flared forward and unusually prominent. Affected males may also have a large, prominent nose with a high, narrow nasal bridge, a narrow prominent jaw, and sometimes a long, narrow face.
Some males with Nance-Horan syndrome may also experience delays the skills necessary for coordinating muscular and mental activity. In addition, some reports suggest that approximately 20 to 30 percent of affected males may have varying levels of intellectual disability, which is usually mild to moderate; but in some cases can be severe.Females who carry a single copy of the
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
|Medical Terms||Other Names||
|80%-99% of people have these symptoms|
Clouding of the lens of the eye
Cloudy lens[ more ]
Elongation of face
Increased height of face
Increased length of face
Vertical elongation of face
Vertical enlargement of face
Vertical overgrowth of face[ more ]
Big lower jaw
Increased projection of lower jaw
Increased size of lower jaw
Large lower jaw
Prominent lower jaw[ more ]
Cornea of eye less than 10mm in diameter
Involuntary, rapid, rhythmic eye movements
|Prominent nasal bridge||
Elevated nasal bridge
High nasal bridge
Prominent bridge of nose
Prominent nasal root
Protruding bridge of nose
Protruding nasal bridge[ more ]
Disproportionately large nose
Increased nasal size
Increased size of nose
Pronounced nose[ more ]
Loss of vision
Vision loss[ more ]
|30%-79% of people have these symptoms|
|Increased number of teeth||
Increased tooth count
Supplemental teeth[ more ]
Mental retardation, nonspecific
Mental-retardation[ more ]
Prominent ears[ more ]
Shortened long bone of hand
Squint eyes[ more ]
|5%-29% of people have these symptoms|
Psychiatric disturbances[ more ]
Abnormally small eyeball
|1%-4% of people have these symptoms|
|Intellectual disability, moderate||
IQ between 34 and 49
|Percent of people who have these symptoms is not available through HPO|
Wide fingers[ more ]
Clouding of the lens of the eye at birth
Gap between teeth
Decreased breadth of face
Decreased width of face[ more ]
|Posterior Y-sutural cataract||0008031|
Screwdriver shaped front teeth
|Short phalanx of finger||
Short finger bones
|Supernumerary maxillary incisor||
Extra upper front tooth
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.
If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.
You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Conditions with similar signs and symptoms from Orphanet
Differential diagnosis includes: X-linked microphthalmia, Lenz syndrome, Oculo-facio-cardio-dental (OFCD) syndrome, and Oculo-cerebro-renal (Lowe) syndrome (see these terms).
Visit the Orphanet disease page for more information.
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question
My nephew was diagnosed with Nance-Horan syndrome. He was born with cataracts, supernumerary teeth, and facial dysmorphism. He doesn't have intellectual disabilities. My sister is the carrier and she has some of the characteristics; but much less severe than her son. No other family members have features of the syndrome. Is it possible that the genetic defect started with her? And what are the chances of my sister having a child without the defect? Is it possible to be a carrier and not show any outward signs of the syndrome? See answer