What is Treacher Collins Syndrome?
Treacher Collins Syndrome is an extremely rare familial pathological condition which is characterise by congenital disfigurement of the face and head . The abnormalities that can be watch in the craniofacial part as a final result of Treacher Collins Syndrome admit : Underdeveloped jaw , cheekbones , and mouth . This results in the tike finding it hard to pass off and even feed . Ocular malformations are also one of the features of Treacher Collins Syndrome with observation of palpebral crack along with abnormalities of the external and middle ear making it unmanageable for the kid to see and get wind .
Due to Treacher Collins Syndrome , a child may also show developmental delays and psychomotor retardation due to the brain not being fully develop . The symptoms because of Treacher Collins Syndrome are exceedingly varying and tend to disagree from somebody to individual .
Some nestling may be so gently impress by Treacher Collins Syndrome that they may be completely symptomless and the disease may stay undiagnosed whereas in some fry the symptom of Treacher Collins Syndrome may be so severe so as to stimulate sure life threaten complications .
The main reason of Treacher Collins Syndrome is mutation in cistron TCOF1 , POLR1C or POLR1D cistron . This condition follow both autosomal dominant and autosomal recessive traits meaning that a tyke may get this status with either one written matter of the faulty cistron being inherited from any parent and two copies of the wrong factor which need to be inherited from each parent depending on the genetic mutation in gene to uprise Treacher Collins Syndrome .
What are the Causes of Treacher Collins Syndrome?
As tell , the main cause of Treacher Collins Syndrome is mutation in cistron TCOF1 , POLR1C or POLR1D cistron . When there is mutation in TCOF1 cistron , the disease condition is inherited as autosomal dominant , whereas if there is mutation in the POLR1C factor it is autosomal recessive . In cases of chromosomal mutation in POLR1D , it can be both autosomal dominant as well as autosomal recessive allele .
The absolute majority of the cases of Treacher Collins Syndrome are as a result of mutation in gene TCOF1 estimating to about 80 - 90 % . The map of the TCOF1 cistron is to produce protein call up treacle .
The accurate performance of this protein is not totally understood but it is believed to be associated with the development of bones and gristle require for development of grimace during the embryonic stage of development .
A decrease in the production of this protein is what that results in the underdevelopment of the face and headland resulting in Treacher Collins Syndrome .
What are the Symptoms of Treacher Collins Syndrome?
The symptom of Treacher Collins Syndrome are importantly varying and differ from somebody to individual . Some minor may be asymptomatic while others may have potentially serious symptoms . The majority of the symptoms of Treacher Collins Syndrome pretend the cheekbones , jaw , eyes and auricle which may do problem with chewing , breathing , earreach , ascertain and even in some cases speaking . Some of the common symptoms of Treacher Collins Syndrome are :
How is Treacher Collins Syndrome Diagnosed?
A diagnosing of Treacher Collins Syndrome will be made by taking a detailed history of the patient and conducting a thorough physical interrogation which will show the characteristic findings of the precondition which will good enough for a diagnosing of Treacher Collins Syndrome .
Radiological studies in the form of x - rays or MRI and CT CAT scan may also be done to look at the extent of abnormalities within the craniofacial areas such as the extent to which the jaw has develop and the abnormality associated with the zygomatic , and if any abnormality are present in the domain of the nous and skull .
For confirmatory diagnosing , a transmissible examination may be done which clearly show sport in the genes TCOF1 , POLR1C , and POLR1D factor which will confirm the diagnosis of Treacher Collins Syndrome .
How is Treacher Collins Syndrome Treated?
As of now , there is no therapeutic for Treacher Collins Syndrome . The mainstay of treatment is only symptomatic and supportive . The discourse involves a multidisciplinary approach from a team of specialist to include pediatricians , is Ear , Nose , and pharynx specialist , dentists , plastic operation , speech pathologists , audiologists , ophthalmologist , and psychologists , who can sit together to psychoanalyse the abnormalities in the affected role and formulate the best treatment plan for the patient role .
steady screenings for the patient will be mandatory in typesetter’s case of Treacher Collins Syndrome to check for the status of ocular and ear abnormalities to hold whether the patient role is able to see and hear normally or not . The screenings will be done on a routine fundament by ophthalmologist and audiologists .
These screenings bulge out very early in biography and are done every one yr or so . The affected role will also be monitor intimately for jaw and dental abnormalities . If in compositor’s case any abnormalities are get hold then appropriate treatment need to be given .
The child with Treacher Collins Syndrome will involve special motive and a special education medical specialist will need to be involved to make the child work with speech and spoken communication therapy and make the child as independent as potential so that he or she is capable to put his or her mentation across .
surgical procedure is also an important aspect in treatment of children with Treacher Collins Syndrome . Due to terrible irregularity in the craniofacial region include an underdeveloped jaw , os zygomaticum , dentition , and other areas of the back talk reconstructive surgery will be required to chasten the disfiguration .
Surgery will be necessitate to correct disfiguration like scissure palate which is a common finding in children with Treacher Collins Syndrome . to boot , the jaw , malar bone , and some areas of the skull may call for to be reconstruct through OR to bring some sort of visible normalcy in the child with Treacher Collins Syndrome .
It should be noted that all of these surgeries are not performed at once but at different ages . The age at which a particular operation is do depend on the overall health and the severity of the deformity do by Treacher Collins Syndrome .
Despite all the operative procedures done to correct the deformity , the overall result may not be completely normal and some deformity may still remain in acute cases of Treacher Collins Syndrome .
to boot , despite all treatment if a child still has vision disturbances due to optic abnormalities as a result of Treacher Collins Syndrome then corrective lens of the eye or drinking glass may be provided to help the patient see considerably . Similarly duad and dental implants may be given for the youngster for dental abnormalcy as a result of Treacher Collins Syndrome .
