Frontonasal Dysplasia synonyms

Frontonasal Dysplasia is a rare genetic disorder that affects the development of the face and skull. It is also known by several other names, including:

• Median Cleft Face Syndrome


• Frontonasal Malformation


• Frontonasal Dysostosis


• Frontonasal Dysplasia Sequence


• Frontonasal Dysplasia Spectrum

This condition is characterized by a wide range of facial abnormalities, which can vary in severity from mild to severe. The most common features include a broad nasal bridge, widely spaced eyes (hypertelorism), a cleft lip or palate, and a prominent forehead. In some cases, individuals with frontonasal dysplasia may also have additional abnormalities such as a widow's peak hairline, a small or missing nose, or extra fingers or toes.

Frontonasal dysplasia is typically present at birth and can be diagnosed based on the physical characteristics of the individual. Genetic testing may also be used to confirm the diagnosis and identify the specific gene mutations responsible for the condition.

Treatment for frontonasal dysplasia is focused on managing the specific symptoms and abnormalities present in each individual. This may involve surgical interventions to correct cleft lip or palate, reconstructive procedures to reshape the nose or forehead, or other supportive therapies to address any associated health issues.

While frontonasal dysplasia can have a significant impact on an individual's appearance and overall well-being, early intervention and ongoing medical care can help manage the condition and improve quality of life. It is important for individuals with frontonasal dysplasia to work closely with a team of healthcare professionals, including geneticists, craniofacial specialists, and other specialists, to ensure comprehensive care and support.