Saethre Chotzen Syndrome: Causes, Symptoms, Treatment, Diagnosis

Saethre-Chotzen Syndrome is a rare genetic disorder in which there is premature fusion of certain skull bones which results in underdevelopment of the head of the baby and ultimately affects the shape of the head and face of the baby. Apart from fused skull bones, certain other areas of the skull may also be malformed due to Saethre-Chotzen Syndrome.

Due to these malformations, the baby may tend to have high forehead, drooping of the eyelids, widely spaced eyes, facial asymmetry, and an abnormally small and misshapen ears. Saethre-Chotzen Syndrome is basically caused by mutation of the TWIST1 gene. It is an autosomal dominant trait which means that only a single copy of the defective gene is enough for a baby to have Saethre-Chotzen Syndrome.

The symptoms of Saethre-Chotzen Syndrome are quite variable and apart from misshapen head and face, there may be other abnormalities spanning throughout the body. The affected child will tend to have wide spaced eyes among other ocular abnormalities. In some cases, Saethre-Chotzen Syndrome may also result in abnormally small fingers and toes.

The treatment of Saethre-Chotzen Syndrome basically depends on the symptoms that are experienced by the child. Surgery is essential to correct the facial and head anomalies among other deformities caused due to Saethre-Chotzen Syndrome.

As stated above, the main cause of Saethre-Chotzen Syndrome is a defective TWIST1 gene. This gene is a part of chromosome 7. This is an autosomal dominant condition meaning that a single copy of the defective gene is enough for a baby to get Saethre-Chotzen Syndrome.

Males and females both are at equal risk for developing Saethre-Chotzen Syndrome. In some cases, Saethre-Chotzen Syndrome may also be caused due to spontaneous mutation occuring in the sperm or the egg resulting in the baby developing Saethre-Chotzen Syndrome.

The symptoms of Saethre-Chotzen Syndrome are highly variable and if two people of a family have this condition then their symptoms may be entirely different from one another. The symptoms that will be common are fusion of the skull bones resulting in a misshapen head and face.

There will also be distinct deformities of the digits and toes. Facial asymmetry is yet another symptom which is quite common in children with Saethre-Chotzen Syndrome. In some cases, children tend to have a triangular shaped head as a result of Saethre-Chotzen Syndrome.

Due to the fusion of the skull bones, there is very less space left in the brain which results in increased intracranial pressure. Some of the other symptoms of Saethre-

Chotzen Syndrome are broad forehead, ptosis, beaked nose, deviated nasal septum, abnormal protrusion of the lower jaw, widely spaced eyes, strabismus, abnormal narrowing of tear ducts resulting in reduced tearing and predisposition to frequent eye infections.

Saethre-Chotzen Syndrome also causes certain musculoskeletal abnormalities with webbing of soft tissues of some digits, especially the second and third toes. The affected child may also have abnormally short fingers and toes, abnormal bending of the fingers, and deviated great toe as a result of Saethre-Chotzen Syndrome.

Undescended testicles, renal and cardial defects are also seen in some of the cases of Saethre-Chotzen Syndrome.

An ultrasound of the mother before delivery may be a clear give away that the child is suffering from Saethre-Chotzen Syndrome. Apart from this, after the child is born, the specific facial features are good enough to confirm the diagnosis of Saethre-Chotzen Syndrome. Additionally genetic testing may be done to identify the defect in the TWIST1 gene which will definitively confirm the diagnosis of Saethre-Chotzen Syndrome.

The treatment of Saethre-Chotzen Syndrome is primarily aimed at correcting those deformities first that are medically important and will allow the patient to function in a more normal way.

This requires a multidisciplinary approach towards treatment and requires specialists from various medical specialties such as pediatrics, general surgery, neurosurgery, ophthalmology, orthopedics, ENT, and neurologists.

Surgery is essential to treat the fused skull bones so as to create more space within the brain and reduce the intracranial pressure along with bringing the head and face in shape. Surgery may also be required to correct various musculoskeletal manifestations of Saethre-Chotzen Syndrome. The extent of the surgical procedure will depend on the extent and location of the deformity.

Close evaluations by ophthalmologist is also quite essential to treat ptosis and other ocular abnormalities caused by Saethre-Chotzen Syndrome. In case of hearing deficits, consultation with an audiologist is also very important to correct the deficit.

In cases of intellectual disabilities, speech therapy and special education specialists may be required to make the patient as independent as possible despite Saethre-Chotzen Syndrome.