What is frontonasal dysplasia?
What is frontonasal dysplasia?
Frontonasal dysplasia is a rare disease that results from abnormal development of the head and face before birth. Symptoms often vary, however more common symptoms include wide spaced eyes, a widow’s peak, and a broad nose.
What is frontonasal dysplasia ( median cleft face syndrome)?
Frontonasal Dysplasia, also known as Median Cleft Face Syndrome, is a condition in which the nose has a flat, wide appearance, and the eyes may be wide-set. There is a groove of varying degrees, which runs down the middle of the face across the nose. In some cases the tip of the nose is missing.
What are the signs and symptoms of fronotonasal dysplasia?
Less severe clefts may involve only one of these areas. This form of fronotonasal dysplasia is characterized by a large skull defect and a premature fusion of the coronal suture (coronal craniosynostosis). Features of this disorder include widely spaced eyes (ocular hypertelorism) and severely depressed nasal bridge and ridge.
What causes undescended testes in Acromelic frontonasal dysplasia?
Males affected with acromelic frontonasal dysplasia sometimes have undescended testes. FND-1 is caused by mutations in the ALX3 gene; FND-2 is caused my mutations in the ALX4 gene; and FND-3 is caused by mutations in the ALX1 gene.
What is the difference between Type 3 frontonasal dysplasia and microphthalmia?
People with type 3 frontonasal dysplasia may be born without eyes (anophthalmia) or have very small eyes (microphthalmia). Other differences may include having low-set, posteriorly rotated ears, a heart defect known as tetralogy of Fallot, and abnormalities of the brain such as having too much liquid in the brain (hydrocephalus).
What happens if a child has type 1 or 3 frontal dysplasia?
If a person has type 1 or 3 frontal dysplasia and they have a child with a person who does not have frontonasal dysplasia and is not a carrier of the same type of the disease (in other words, both copies of the gene work normally), all of the person’s children will be carriers of frontonasal dysplasia, but none will have the disease.
