It’s a syndrome that is characterized by brachycephaly (see Craniosynostoses), the height of the forehead and cranial vault are increased with frequent finding the premature synostosis of coronal suture.
The intelligence is usually normal.
Other morphological characteristics of this syndrome are the following:
- Low frontal hairline
- Broad nasal bridge and possible deviated nasal septum (DNS)
- Droopy eyelids (ptosis)
- Widely spaced eyes
- Mild syndactylies
The mutations in the gene Twist 1 of chromosome 7 are responsible for the Saethre Chotzen syndrome. They have recognized more than 80 different mutations.
The diagnosis is done by the evaluation of the clinical picture and may be confirmed by genetic analysis.
In infancy, the surgical repair is usually the same as the repair of the bilateral synostotic frontal plagiocephaly (see chapter).
In older ages, the surgical repair is modified depending on the malformations that have been emerged, possibly from a previous surgery.