A genetic disorder associated with craniofacial anomalies or limb anomaly , the Apert syndrome is one of the rarest and most dreaded diseases that occur in children . Occurring approximately in 1 child in every 200,000 bouncy nascency , Apert syndrome is characterized by specific strong-arm malformations . The Apert syndrome is a congenital disorderliness that is a kind of acrocephalosyndactyly . The term “ acrocephalosyndactyly ” refers to the peaked head cast that is common in every patient suffering from Apert syndrome . However , the language of the disease is ascribe to a French physician list Eugene Apert , who first described the disease in the year 1906 .
What is Apert Syndrome?
Apert syndrome is the disease in which the abnormal development of the skull pass off due to a transmissible upset . Apert syndrome is a birth fault in which the baby are born with distorted face and head teacher , along with webbed toes and fingers . It is a complex term that is cause by early stoppage or untimely coalition of the skull bones .
What are the Signs and Symptoms of Apert Syndrome?
Distortion in the head or skull and in the facial expression , along with the other organic structure contribution is the common sign and symptom of Apert syndrome . The children born with Apert syndrome are seen to have bicoronal synostosis , complex syndactyly of the hand and human foot and mid - face hypoplasia . To hash out these in more details , the symptom of Apert syndrome can be classified as :
Craniosynostosis : This is a phenomenon in which the forehead grows mellow and prominent along with a skull that has a flat hind end . The mid facial bones are underdeveloped and as a result , a concave or flat brass is developed . It also admit broadly speaking spaced eyes with a bony , yet shallow celestial orbit and abject set ears . The bicoronal synostosis refers to a condition in which both of the coronal complex body part in a skull , fuse together . This leads to the unnatural growth of the skull that ultimately has a pressure on the grow brain .
Syndactyly : This phenomenon associate branch anomalies . This include a short thumb , web long , index and doughnut finger .
aside from these , the other common symptom include :
There are also some less common symptom and they include :
Epidemiology of Apert Syndrome:
There have been unlike reports and estimates of the occurrence of Apert syndrome . Initially it was reported to be only 1 type in every 200,000 live birth . According to the California Birth Defects Monitoring Program that was conducted in 1997 , a rate of 1 in 80,645 out of almost 2.5 million resilient nascency is reported to have Apert syndrome . However , in a late report by the Craniofacial Centre , North Texas Hospital for Children , the frequency rate has been seen to have increased up to 1 in 65,000 live births . This account for 4.5 % cases being recognised as Apert syndrome , in all pillowcase of Craniosynostosis . The risk gene of Apert syndrome increases with the Asians , take it 22.3 cases per million live births , whereas the Hispanics have the humble rate of 7.6 example per million live births .
Although in some of the cases , Apert syndrome affects the normal IQ level , studies have shown that about 4 in every 10 child meet from Apert syndrome , who have had right handling , have received a normal IQ grade . In another cogitation , 136 children with Apert Syndrome were observe to be attending college .
What Causes Apert Syndrome?
The cause of Apert syndrome is the mutation of the single FGFR2 gene . It is this gene that is responsible for for develop and guiding a protein namely the fibroblast growth constituent receptor 2 to give signals to the green cells to take the place of the ivory cell . This is done in the embryonal stage and hence , the disease seems to pass off mighty from the time of conception . As a outcome , the finger cymbals unite together at random and raise the premature coalition of skull bone , as well as hands and understructure .
Diagnosis of Apert Syndrome:
The symptom of the disease are quite prominent and help the doctors to diagnose the medical circumstance . The doctors usually examine the skull of the child properly to determine from its shape , if any suture of the skull have fused or not . Genetic examination can identify this disease or syndrome .
Along with the strong-arm tests , skull X ray or CT scan is also done to check the cause of the evolution or shaping of the unnatural skull .
What is the Treatment for Apert Syndrome?
There is no handling function known that will completely cure and treat Apert syndrome . However , as the children gradually get up , they undergo almost about 20 cognitive operation that are well - coordinate by a squad of specialist MD in various medical battleground . The surgery are done in specific time gaps , giving the nipper the time to cope with the surgery as well as to be heal from its painful sensation . The surgeries are the only way through which , most of the unnatural connections between the os structure of the skull and the look are treat . Gradually the net paw and base are also treat through surgery .
Treating Apert Syndrome with Craniosynostosis Release:
The first step of intervention of this disease is to carve up the skull bones that are abnormally fuse with one another . Once the separation cognitive operation is complete , surgeons part rearrange some of the off-white in a manner that the skull catch its normal form , as much as possible to be done manually . unremarkably the skull formation surgery or Craniosynostosis spill is done at the early age of the kid , when he is between 6 to 8 months old , as the bones are mild and easier to rearrange at this time .
Treating Apert Syndrome with Mid-Face Advancement:
In this appendage , the face is given a normal shape by cut the bones of the jaw and cheeks . The surgeon fetch them forward to give them a normal position . It is done in an advanced age , any time within the eld of 4 and 12 age .
Treating Apert Syndrome with Hypertelorism Correction:
In this cognitive process , the Italian sandwich of bone between the two oculus is remove and the eye sockets are brought closer to each other .
Child Care during the Treatment Process of Apert Syndrome:
As the surgical procedure to care for Apert Syndrome are extremely intensive , a proper and thorough forethought must be given to the nestling during these processes . It helps them to fend off the potential further transmission that they are prone to grow .
Apert Syndrome Prognosis and Life Expectancy:
With the above mentioned discourse procedures follow , the minor with Apert syndrome can get a far better life and the facial complex body part can be ameliorate to a not bad extent . Even their physical limitation could be subdue . The earlier the treatment are done the good the recovery would be and thus the child can lead a better fulfil life .
Life expectancy in baby with Apert syndrome is usually normal ; however , there can be premature destruction due to the complication or health problems connect with this syndrome .
