What is Sakati syndrome?
Sakati syndrome is a very rare congenital condition in which the affected child has an abnormally pointed head as a result of premature closing of the cranial sutures (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.
How common is Sakati syndrome?
Sakati syndrome is named after the researcher (N. Sakati) who, along with colleagues, originally described the condition in 1971. They reported the disease entity in a single male child of a couple who were of advanced parental age. This apparently remains the only case reported in the medical literature to date. Please discuss with your doctor for further information.
What are the symptoms of Sakati syndrome?
In Sakati syndrome, the fibrous joints between the bones in the skull (cranial sutures) close prematurely (craniosynostosis), causing an affected infant’s head to grow upward at an accelerated rate. As a result, the head appears long, narrow, and pointed at the top (acrocephaly).
Affected individuals also have several unusual facial characteristics including:
- Flat, abnormally small face
- Protruding eyes
- Abnormally wide space between the eyes (ocular hypertelorism)
- Elongated nose
- Large, malformed (dysplastic) and low-set ears
- Prominent forehead
Sakati syndrome is also characterized by several deformities of the hands and feet, including:
- Abnormally short fingers (brachydactyly)
- Unusually broad thumbs and big toes
- Webbed toes (syndactyly)
- Additional fingers and/or toes (polydactyly)
Abnormalities of the legs are also present, including:
- Bowed thigh bones (femurs)
- Abnormally shaped, displaced calf bones (fibulas)
- Underdeveloped shin bones (hypoplastic tibias)
In addition, both the legs and arms are shorter than normal.
Additional symptoms associated with this disorder may include:
- Teeth that are crowded together
- Underdeveloped upper jaw bone (maxillary hypoplasia)
- Jaws that project forward (prognathism)
- Short neck
- Low hairline
- Absence of hair (alopecia)
- Congenital heart disease
Intelligence is usually within normal limits.
There may be some symptoms not listed above. If you have any concerns about a symptom, please consult your doctor.
When should I see my doctor?
If you or your loved one has any signs or symptoms listed above or you have any questions, please consult with your doctor. Everyone’s body acts differently. It is always best to discuss with your doctor what is best for your situation.
What causes Sakati syndrome?
There is no root cause for Sakati Syndrome found as of yet but it is believed to be caused by random mutation of genes which occurs for some unknown cause.
Sakati syndrome is an autosomal dominant trait meaning that one copy of the defective gene from either parent is enough for a child to develop the condition.
What increases my risk for Sakati syndrome?
Researchers are of the opinion that female getting pregnant at an advanced age may lead to the child having Sakati Syndrome. However, this theory has not been proven as of yet. Please consult with your doctor for further information.
Diagnosis & treatment
The information provided is not a substitute for any medical advice. ALWAYS consult with your doctor for more information.
How is Sakati syndrome diagnosed?
Sakati syndrome can be detected at birth, based upon a clinical evaluation and identification of characteristic physical findings.
How is Sakati syndrome treated?
Treatment primarily consists of surgical correction of malformations. Early craniofacial surgery may be performed to correct the premature closure of the bones in the skull (craniosynostosis) and. Additional craniofacial surgery may be done later in life as well as surgery to correct deformities of the hands and feet. In addition, surgical repair of the bone abnormalities of the legs may also be performed to improve the affected individuals’ ability to walk.
Infants with Sakati syndrome who have congenital heart defects may also be treated surgically. The surgical procedure performed will depend upon the severity and location of the heart defects and their associated symptoms.
Other treatment is symptomatic and supportive. Genetic counseling will be of benefit for affected individuals and their families.
Lifestyle changes & home remedies
What are some lifestyle changes or home remedies that can help me manage Sakati syndrome?
If you have any questions, please consult with your doctor to better understand the best solution for you.
Hello Health Group does not provide medical advice, diagnosis or treatment.
Sakati Syndrome https://rarediseases.org/rare-diseases/sakati-syndrome/ Accessed February 6, 2018
Sakati syndrome https://rarediseases.info.nih.gov/diseases/115/sakati-syndrome Accessed February 6, 2018
What is Sakati Syndrome: Causes, Symptoms, Treatment https://www.epainassist.com/genetic-disorders/sakati-syndrome Accessed February 6, 2018
Review Date: February 6, 2018 | Last Modified: February 6, 2018