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What is Aarskog Syndrome?
Aarskog Syndrome is an passing rarefied inherited medical condition which affects only males . It causes a all-inclusive regalia of skeletal , genital , and facial abnormalities . The basal feature of Aarskog Syndrome is a big scant height of the affected role . Some children with Aarskog Syndrome also display cognitive abnormalities.[1 , 2 ]
Aarskog Syndrome is a result of an abnormality in the FGD1 cistron and is an X - linked disorderliness . It has also been observed that Aarskog Syndrome tend to conquer increment which may not be watch until the nipper give the age of three or more . Aarskog Syndrome is count on to be present in 1 of every 25,000 births which ca-ca it passing rare.[1 , 2 ]
What Causes Aarskog Syndrome?
As stated , mutation in the FGD factor present in the X chromosome is the primary cause of Aarskog Syndrome . Aarskog syndrome primarily impress Male ; however , in rare representative female who are carrier of the faulty genes may also show symptom of it.[1 , 2 ]
It should be cite here that studies have show that only 22 % of males touch on with Aarskog Syndrome have FGD1 gene mutation .
Thus , it is quite sure that there are other gene also which have not been discover yet which are associated with Aarskog Syndrome.[1 , 2 ]
What are the Symptoms of Aarskog Syndrome?
Any tiddler with Aarskog Syndrome will show outstanding facial , bony , and venereal abnormalities even though the degree of harshness will differ from person to person . Generally , children with Aarskog Syndrome will have an abnormallyshort staturewith rounded face and a broad forehead . Their optic will be widely spaced and there will be pregnant dropping of the eyelids . The olfactory organ will be abnormally small with anteverted naris . The jawbones will not be completely developed.[2 ]
child with Aarskog Syndrome will also have abnormalities pertaining to the dentition and the ears . The ears may be low set and significantly dense . There will be stay in the growing of tooth in children with Aarskog Syndrome along with enamel hypoplasia . The feet and hands of kid with this condition will also be abnormally short . Pectus excavatum or a sunken chest is also quite rough-cut in children with Aarskog Syndrome.[2 ]
How Is Aarskog Syndrome Diagnosed?
Since most of the feature film of Aarskog Syndrome are visible at the metre of nascence thus diagnosis of the condition can be made just by a visual review . However , since many of the features watch with Aarskog Syndrome are also present with other genetic atmospheric condition and thus the MD will order a genetic testing to tick off for mutant in the FGD1 gene.[1 ]
This is especially required if there is a family history of Aarskog Syndrome or if there is any first degree relative of the patient with this condition . Once the mutation of the cistron is affirm a diagnosis of Aarskog Syndrome is made.[1 ]
How is Aarskog Syndrome Treated?
Since Aarskog Syndrome is a genetical shape , there is no cure for it . However , there are treatments pick usable organise towards the symptom and improve the quality of life of the Aarskog Syndrome patient . The treatment approaching is designed by a squad of baby doctor , sawbones , cardiologist , oculist , talking to specialists , and tooth doctor . They will devise a treatment plan that will be best suit for the Aarskog Syndrome patient.[2 ]
For correcting the wasted abnormalities seen with Aarskog Syndrome , several surgeries may have to be done . Individuals with Aarskog Syndrome require regular heart and dental evaluations throughout their lives . Some study point towards the utilization of growth hormone to improve the top of children with Aarskog Syndrome but there is no concrete grounds for it.[2 ]
For neurodevelopmental issues , it is necessary for the patient to have neuropsychiatric evaluations for treatment . apart from this , only symptomatic and supportive handling is available as of now for Aarskog Syndrome . It is also important for families of people with Aarskog Syndrome to undergo genetic counseling to get a ended knowledge of the inheritance pattern and the risk of infection of their materialisation produce this condition.[2 ]
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