Frontonasal dysplasia is a rare disorder characterized by abnormal development of the head and face before birth. It is also referred to as median facial cleft syndrome, median cleft syndrome and median cleft face syndrome. Frontonasal dysplasia is very rare, with only about 100 cases reported in the literature.
Symptoms
People with frontonasal dysplasia are usually born with wide-set eyes (hypertelorism), a flat broad nose, and a vertical groove (cleft) affecting the middle of the face. Some may be born with a skin-covered gap in the front of the skull where bone should be (anterior cranium bifidum occultum). The condition can also include hearing loss and eye defects, such as missing tissue in the eye (coloboma).
Other symptoms of frontonasal dysplasia may be associated with one of three different types:
Type 1 frontonasal dysplasia
Affected individuals may have a widow’s peak, small nostrils, cleft lip and/or palate, and a short and small head (brachycephaly).
Type 2 frontonasal dysplasia
Large differences in the way the skull is formed, such as craniosynostosis, or the premature fusion of developing bone, may be present in type 2 frontonasal dysplasia patients, as well as rapid hair loss, absence of hair (alopecia), or excessive facial hair (facial hypertrichosis).
Type 3 frontonasal dysplasia
People with type 3 frontonasal dysplasia may be born without eyes (anophthalmia) or have very small eyes (microphthalmia). 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), are symptoms of type 3. Affected individuals may also have skeletal abnormalities, such as absent tibia, an extra toe (polydactyly) or clubfeet (talipes).
Some people with frontonasal dysplasia types 2 and 3 may have intellectual disability. Males with frontonasal dysplasia types 2 and 3 may have undescended testes (cryptorchidism).
Diagnosis
Frontonasal dysplasia is diagnosed through a physical exam at birth that may include X-rays, CT scans and genetic testing.
Treatment
Treatment is highly individualized based on the effects present in your child. Facial clefts can be treated with reconstructive surgery, typically in multiple stages starting from 6 to 8 years of age. If facial clefts are impairing your child’s ability to breathe, surgery will be recommended earlier.
For children who suffer from intellectual disabilities or developmental delays, special education and early intervention can help.
Treatment success for your child depends on the severity of the effects of the condition. The team of specialists at the North Carolina Cleft and Craniofacial Center can provide comprehensive care of your child through reconstruction, surgery, therapy and future checkups.
