Frontonasal dysplasia
Frontonasal Dysplasia
Frontonasal dysplasia (pronounced: fron-toe-nay-zuhl dis-play-zhuh) is a rare genetic disorder characterized by abnormalities in the development of the head and face.
Etymology
The term "frontonasal dysplasia" is derived from the Latin words "frons" meaning forehead, "nasus" meaning nose, and "dysplasia" meaning abnormal growth or development.
Definition
Frontonasal dysplasia is a congenital condition, meaning it is present from birth. It is characterized by a broad, flat nose, widely spaced eyes (hypertelorism), a large forehead, and a cleft in the middle of the face. The severity of these symptoms can vary widely among affected individuals.
Symptoms
Symptoms of frontonasal dysplasia can include:
- Widely spaced eyes (hypertelorism)
- Broad, flat nose
- Cleft in the middle of the face
- Large forehead
- Other facial abnormalities
Causes
Frontonasal dysplasia is caused by mutations in the ALX3, ALX4, and ZSWIM6 genes. These genes are involved in the development of the head and face. The condition is inherited in an autosomal dominant manner, meaning an affected person has a 50% chance of passing the disorder onto their children.
Diagnosis
Diagnosis of frontonasal dysplasia is typically made based on the physical characteristics present at birth. Genetic testing can confirm the diagnosis.
Treatment
Treatment for frontonasal dysplasia is typically focused on managing the symptoms and may include surgery to correct facial abnormalities.
Related Terms
External links
- Medical encyclopedia article on Frontonasal dysplasia
- Wikipedia's article - Frontonasal dysplasia
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