What is Saethre Chotzen Syndrome?
Saethre - Chotzen Syndrome is a uncommon transmitted disorder in which there is premature nuclear fusion reaction of certain skull bones which result in underdevelopment of the head of the infant and finally affects the shape of the head and face of the sister . Apart from fused skull bones , sealed other surface area of the skull may also be malformed due to Saethre - Chotzen Syndrome .
Due to these malformation , the infant may tend to have high forehead , drooping of the eyelids , wide space eyes , facial asymmetry , and an abnormally small and misshapen pinna . Saethre - Chotzen Syndrome is fundamentally cause by mutation of the TWIST1 gene . It is an autosomal dominant trait which signify that only a single transcript of the defective gene is enough for a baby to have Saethre - Chotzen Syndrome .
The symptoms of Saethre - Chotzen Syndrome are quite varying and aside from misshapen top dog and cheek , there may be other abnormalities traverse throughout the body . The unnatural tiddler will tend to have encompassing spaced eyes among other optical abnormality . In some guinea pig , Saethre - Chotzen Syndrome may also leave in abnormally small fingers and toes .
The treatment of Saethre - Chotzen Syndrome essentially depends on the symptoms that are experienced by the tyke . Surgery is indispensable to correct the facial and chief anomaly among other deformities get due to Saethre - Chotzen Syndrome .
What are the Causes of Saethre Chotzen Syndrome?
As stated above , the master causa of Saethre - Chotzen Syndrome is a defective TWIST1 factor . This gene is a part of chromosome 7 . This is an autosomal predominant experimental condition meaning that a exclusive transcript of the bad gene is enough for a baby to get Saethre - Chotzen Syndrome .
male and female both are at equal risk for developing Saethre - Chotzen Syndrome . In some cases , Saethre - Chotzen Syndrome may also be caused due to ad-lib mutation pass in the spermatozoan or the egg resulting in the baby developing Saethre - Chotzen Syndrome .
What are the Symptoms of Saethre Chotzen Syndrome?
The symptoms of Saethre - Chotzen Syndrome are extremely varying and if two the great unwashed 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 foreland and nerve .
There will also be discrete deformities of the digits and toes . Facial dissymmetry is yet another symptom which is quite vernacular in children with Saethre - Chotzen Syndrome . In some case , children run to have a triangular shaped head as a result of Saethre - Chotzen Syndrome .
Due to the unification of the skull bones , there is very less space left in the mentality which ensue in increase intracranial pressure . Some of the other symptoms of Saethre-
Chotzen Syndrome are broad brow , ptosis , beaked nose , deviated nasal septum , abnormal jut of the lower jaw , wide spaced eyes , strabismus , abnormal narrowing of tear duct resulting in reduced lacrimation and predisposition to frequent eye infections .
Saethre - Chotzen Syndrome also induce certain musculoskeletal abnormalities with webbing of soft tissues of some digits , specially the 2d and third toes . The affected child may also have abnormally short fingers and toe , unnatural bending of the fingers , and deviated peachy toe as a effect of Saethre - Chotzen Syndrome .
Undescended testicles , renal and cardial defects are also seen in some of the subject of Saethre - Chotzen Syndrome .
How is Saethre Chotzen Syndrome Diagnosed?
An ultrasound of the mother before delivery may be a clear give away that the tiddler is suffer from Saethre - Chotzen Syndrome . aside from this , after the small fry is contain , the specific facial features are well enough to sustain the diagnosis of Saethre - Chotzen Syndrome . to boot genetic examination may be done to key the defect in the TWIST1 cistron which will definitively affirm the diagnosis of Saethre - Chotzen Syndrome .
How is Saethre Chotzen Syndrome Treated?
The treatment of Saethre - Chotzen Syndrome is primarily aimed at set those deformities first that are medically important and will allow the patient role to function in a more normal way .
This necessitate a multidisciplinary coming towards treatment and requires specializer from various aesculapian specialties such as pedology , general surgery , neurosurgery , ophthalmology , orthopedics , ENT , and neurologist .
operating room is essential to treat the consolidated skull bones so as to make more blank space within the mentality and shorten the intracranial insistence along with bringing the head and look in form . operating theatre may also be involve to correct various musculoskeletal manifestations of Saethre - Chotzen Syndrome . The extent of the operative procedure will bet on the extent and location of the deformity .
Close valuation by ophthalmologist is also quite indispensable to treat ptosis and other visual abnormalcy because of Saethre - Chotzen Syndrome . In fount of hearing deficits , interview with an audiologist is also very important to correct the deficit .
In cases of intellectual disability , voice communication therapy and special Education Department specialists may be required to make the affected role as independent as possible despite Saethre - Chotzen Syndrome .
