What is Sakati Syndrome?
Sakati Syndrome is a very rare congenital condition which is characterized by the child having an abnormally pointed head as a result of premature closing of the cranial sutures, which is a medical condition known by the name of craniosynostosis.
Additionally, there is webbing of certain fingers or toes and presence of more than normal fingers. There may also be musculoskeletal deformities of the lower extremities with malformed calf. An infant with Sakati Syndrome tends to also have certain congenital cardiovascular defects as well.
There is no root cause for Sakati Syndrome found as of yet but it is believed to be caused due to random mutation of genes which occurs for some unknown cause. It is an autosomal dominant trait meaning that one copy of the defective gene from either parent is enough for a child to develop Sakati Syndrome.
What are the Causes of Sakati Syndrome?
As stated, there is no known reason as to why there is development of Sakati Syndrome but researchers are of the opinion that female getting pregnant at an advanced age may lead to the child having Sakati Syndrome but this theory has not been proven as of yet.
The best possible cause for Sakati Syndrome is believed to be sporadic mutation of genes but why these mutations occur is still a matter of ongoing research. This condition is an autosomal dominant trait meaning that one copy of the gene from any parent is enough to cause a child to develop Sakati Syndrome.
What are the Symptoms of Sakati Syndrome?
Craniosynostosis is the most prominent symptom of Sakati Syndrome with the head pointing upwards sharply which results due to premature closure of the cranial sutures. As a result of the Sakati Syndrome, the affected individual tends to also have certain facial characteristics including an abnormally small face, protruding eyes, elongated nose, and low set ears.
Additionally, the affected individual will also have certain musculoskeletal deformities to include abnormally short fingers, webbed toes, and more than the normal number of fingers, and malformed calf bones. The upper and lower extremities may also be shorter than normal for age in children with Sakati Syndrome.
In some cases, affected individuals with Sakati Syndrome may also have underdeveloped jaw bones, short neck and alopecia. Congenital heart defects are also one of the characteristics of Sakati Syndrome.
How is Sakati Syndrome Diagnosed?
Sakati Syndrome is a medical condition that can be easily detected at the time of birth and upon detailed physical examination which will clearly show the characteristics which mark the presence of Sakati Syndrome.
How is Sakati Syndrome Treated?
Surgery is the mainstay of treatment for Sakati Syndrome as most of the anomalies like craniosynostosis and heart defects can only be treated surgically. Additionally surgery may be required for correcting other musculoskeletal deformities like webbed toes and other bone abnormalities that can be seen in patients with Sakati Syndrome.
This will be to make them as independent as possible with respect to ambulation and their ability to carry out their activities with minimal dependence which gets severely impacted as a result of Sakati Syndrome. Additionally genetic counseling is also of much benefit for the families who have a member with Sakati Syndrome.