Nance-Horan syndrome is a rare genetic disorder that may be evident at birth in male patients. It is characterized by teeth abnormalities and cataracts, resulting in poor vision. Additional eye abnormalities are also often present, including a very small cornea and nystagmus. In about 30% of the cases, intellectual impairment is observed with inter- and intrafamilial variability. If present, intellectual impairment is usually mild or moderate, without motor delay, but in 20% of cases it is severe/profound and associated with autistic features. The range and severity of symptoms may vary greatly from one person to another, even among affected members of the same family.
Diagnosis of Nance-Horan syndrome is based on clinical findings. Visually significant cataracts need to be removed early to allow for normal visual maturation. Glaucoma could be treated medically or surgically depending on the type and severity. Dental surgery may be required for at-risk males and females.