Nance-Horan Syndrome synonyms

Nance-Horan Syndrome is a rare genetic disorder that primarily affects the development of the eyes and teeth. It is also known by several other names, including:

• Conradi-Hünermann-Happle syndrome


• X-linked cataract-dental syndrome


• X-linked cataract-dental syndrome type 1


• X-linked cataract-dental syndrome type 2

This condition is inherited in an X-linked dominant manner, meaning that it primarily affects males and can be passed on by affected females to their children. The syndrome is caused by mutations in the NHS gene, which is responsible for producing a protein involved in the development of various tissues in the body.

The main features of Nance-Horan Syndrome include congenital cataracts, which are clouding of the lenses in the eyes that can impair vision. These cataracts are usually present at birth or develop during early childhood. Additionally, individuals with this syndrome may have other eye abnormalities such as microphthalmia (abnormally small eyes), strabismus (crossed or misaligned eyes), and glaucoma (increased pressure within the eye).

Another characteristic feature of Nance-Horan Syndrome is dental anomalies. These can include missing teeth (hypodontia), abnormally shaped teeth, and delayed tooth eruption. The severity and specific dental abnormalities can vary among affected individuals.

In addition to the ocular and dental findings, some individuals with Nance-Horan Syndrome may have intellectual disability, developmental delay, and characteristic facial features such as a prominent forehead, broad nasal bridge, and a wide mouth.

Diagnosis of Nance-Horan Syndrome is typically based on the presence of characteristic clinical features and confirmed by genetic testing. Management of the condition involves a multidisciplinary approach, including regular eye examinations, early intervention for vision and dental issues, and addressing any associated developmental or intellectual disabilities.