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What is Oral-Facial-Digital Syndrome Type 2 or OFSD Type II?
Oral - facial - digital syndrome type 2 or OFSD Type II is an assorted group of disorders that are characterized by facial anomaly , oral malformations , mental defectiveness of toe and/or finger’s breadth and digital anomalies.(3)Mohr reported the unwritten - facial - digital syndrome case 2 or OFSD Type II in the yr 1941.(3)Various unlike and expressive type of OFDS have been report in which there are 11 unlike clinical entities that are present up till now . It was also report that till now only three cases of unwritten - facial - digital syndrome type 2 or OFSD Type II have been detected in the Japanese people . OFDS is also known globally by other names like OFD2 , Oral Facial Digital Syndrome type 2 and OFD syndrome 2 .
A genetic commonwealth that hinder the development of the mouth , foot , hands , and face is known as Oral - facial - digital syndrome character 2 ( OFDS 2 ) . It fall under the mathematical group Oral - Facial - Digital Syndromes ( OFDS ) . Oral - facial - digital syndrome type 2 is quite interchangeable to Oral - facial - digital syndrome type 1 . Some of the sign and symptom are redundant or coalesced toe and fingers , cleft roof of the mouth and/or lips , congenital pith defect and characterized facial feature . Many researchers , as well as those related to the medical field , distrust that OFDS type 2 is genetic . The exact gene that causes this aesculapian condition is still unknown .
Some of them also believe that the syndrome is inherited through an autosomal recessive allele pattern.(3)There is no particular cure or treatment for unwritten - facial - digital syndrome character 2 or OFSD Type II though ; there are sure measures to care the various symptoms that are see to it in an individual.[2,4]There are 13 different potential forms of Oral - facial - digital syndrome have been identified by the researchers.(5)They are distinguished by their signs and symptom as well as the patterns.(5 )
Signs and Symptoms of Oral-Facial-Digital Syndrome Type 2 or OFSD Type II
The signs and symptoms of different type of unwritten - facial - digital syndrome may depart , however , majority of the forms confront the problem with the development of the oral pit and facial features , brain irregularity and to some extent cerebral disability . The signs and symptom of unwritten - facial - digital syndrome type 2 or OFSD Type II may vary from an soul to an soul .
Some of the common mansion and symptoms of Oral - facial - digital syndrome type 2 or OFSD Type II are listed below :
Except for these , there are other symptoms that may indicate a mortal is brook from Oral - facial - digital syndrome type 2 or OFSD Type II . They are the central nervous system impairment conductive sense of hearing departure , heart - related problems like an atrioventricular canal ( endocardial shock ) defect , respiratory infections and intellectual disabilities.(7)It is seen that 30 % to 79 % of mass stand from the come symptom :
Causes of Oral-Facial-Digital Syndrome Type 2 or OFSD Type II:
unwritten - Facial - Digital Syndromes type 2 is speculated genetic disorder.(7)The factor that cause this syndrome is still not known . However , it seems to be an inheritance in an autosomal recessive inheritance pattern.(6)Oral - facial - digital syndrome type 2 or OFSD Type II is transmitted to the affected child through his parents.(7)The specific cistron that cause unwritten - Facial - Digital Syndrome eccentric II disorderliness is still to be found . It is a very rarefied disorderliness as the parent ’s affected gene should be dominant to transfer the same disorder to the small fry .
Inheritance of Oral-Facial-Digital Syndrome Type 2 or OFSD Type II
Oral - Facial - Digital Syndrome ( OFSD ) character 2 is inherited from an autosomal recessive manner.(7)Therefore it mean that if a affected role has this syndrome , it mean that he has to have the mutation of both copies in each cell that are a responsible.(7)The patient role of the Oral - Facial - Digital Syndrome ( OFSD ) case 2 must carry one mutated copy of a gene from both the parents who are known as the carriers.(7)The carrier who carry autosomal recessive condition are normally not dissemble in any agency nor do they show any sign or symptoms . They simply act as carrier . It is reported that when 2 multitude , the carrier , have an autosomal recessive condition reproduce , their child may have a 25 % chance to be affected by the syndrome ( 1 in 4 ) , 50 % chance to persist unaffected by the carrier like each of their parent ( 1 in 2 ) and 25 % chance of neither being affect by the carrier nor be a letter carrier .
Frequency of Oral-Facial-Digital Syndrome Type 2 or OFSD Type II
unwritten - Facial - Digital Syndrome is gauge to affect 1 in 50,000 to 250,000 newborn children.(8)Majority of the cases of this disorder are report to be type 1 . Type 2 and other types are quite uncommon descriptor of unwritten - Facial - Digital Syndrome and only one family out of so many might be affected by it .
Diagnosis of Oral-Facial-Digital Syndrome Type 2 or OFSD Type II
It is quite thought-provoking to name any type of rare or transmitted related disorderliness . physician normally checker the person ’s medical history , his signs and symptom , strong-arm examen and of row the test final result of the laboratory so as to make a diagnosis .
Treatment of Oral-Facial-Digital Syndrome Type 2 or OFSD Type II
There is n’t any particular treatment for treating the Oral - Facial - Digital Syndrome type 2 ; however , there are many measurement taken by the medical professional so as to handle the various signs and symptom depict by the affected role of OFDS character 2.[1]For lesson , many professionals do the rehabilitative surgery so as to correct toe and/or finger irregularity , oral and facial.(8)Since many people might observe a trouble in meeting with a specialist of this Oral - Facial - Digital syndrome , one may take the avail of advocacy organizations , articles published or clinical trial to get treated as soon as possible . Many of the organization also provides facility of service a aesculapian advisor or may also allow for one with a leaning of clinics that might help you with this syndrome . Since the Oral - Facial - Digital disorder is rarefied and a case 1 is quite known than type 2 , more awareness should be propagate about the type 2 Oral - Facial - Digital Syndrome .
Prognosis of Oral-Facial-Digital Syndrome Type 2 or OFSD Type II
Even though the patient role of the Oral - Facial - Digital Syndrome type 2 belong to the same family ; yet the signs and symptoms of OFDS type 2 may differ from an mortal to an individual.(9)Therefore , the problems that are faced by one may be different from the other item-by-item agony from unwritten - Facial - Digital Syndrome type 2 . Due to rarified compositor’s case of this syndrome , the symptom vary greatly even within the same family . Hence , this makes it difficult to have a good understanding of the complications from unwritten - facial - digital syndrome type 2 or OFSD Type II that could be faced . The challenges and problems confront by two unlike people in the kinfolk can be in opposite focussing and this variability causes problems for the physician to chase down the Oral - Facial - Digital disorder . To have a better understanding of Oral - Facial - Digital Syndrome and various complication that come with this syndrome , it is advised to whole reveal all the details to the pro . Since the signs and symptom take issue from person to person , the Oral - Facial - Digital Syndrome may otherwise affect individuals .
Life Expectancy of Oral-Facial-Digital Syndrome Type 2 or OFSD Type II
The estimated life-time expectancy of the somebody put up from Oral - Facial - Digital Syndrome type 2 is comparatively normal , but the calibre of living they pass is not very easy . patient meet from Oral - facial - digital syndrome character 2 or OFSD Type II face numerous problems throughout life and this make life difficult for them .
Other Types of Oral-Facial-Digital Syndrome Type 2 or OFSD Type II
unwritten - Facial - Digital Syndrome ( OFDS ) Type I : It is also known as Papillon- Leage- Psaume- Syndrome . It include common and lean hair growth . PKD ( Polycystic Kidney Disease ) is a part of OFDS Type I disorder . However , this becomes dynamic only after the stirred child pass on the teenage . unwritten - Facial - Digital Syndrome ( OFDS ) Type I is the most known and common when compared to the other case of this syndrome .
unwritten - Facial - Digital Syndrome ( OFDS ) Type III : OFDS Type III is globally known by the name of Sugarman ’s Disease or Sugarman syndrome . OFDS Type III involves extra fingers and toes with more than the usual routine of tooth in a human body . OFDS Type III may also lead to see - saw winking.(8 )
unwritten - Facial - Digital Syndrome ( OFDS ) Type IV : It is have it off by the name of Baraitser- Burn Syndrome . The patient suffer from Baraitser- Burn Syndrome possesses light limbs.[2 ]
Oral - Facial - Digital Syndrome ( OFDS ) Type V : This character of OFDS syndrome goes by the name of Thurston Syndrome and is differentiate with middle line lip cleft .
unwritten - Facial - Digital Syndrome ( OFDS ) Type VI : Also experience as Varadi - Papp Syndrome , this eccentric of OFDS syndrome is characterized by polydactyly where there are special toes and fingers .
Oral - Facial - Digital Syndrome ( OFDS ) Type VII : Kidney Abnormalities are faced in Oral - Facial - Digital Syndrome ( OFDS ) Type VII syndrome , which is normally have it away as Whelan Syndrome .
unwritten - Facial - Digital Syndrome ( OFDS ) Type VIII : It is known as Edwards Syndrome and not much information is available on OFDS Type VIII .
unwritten - Facial - Digital Syndrome ( OFDS ) Type IX : This case of Oral - Facial - Digital Syndrome normally contain retinal abnormalities and includescleft brim , sturdy epiglottis and retina ’s abnormal development.(8 )
unwritten - Facial - Digital Syndrome ( OFDS ) Type X : There is a problem in the growth of some long bones of the arm and ramification in patient suffering from unwritten - Facial - Digital Syndrome ( OFDS ) Type X.
unwritten - Facial - Digital Syndrome ( OFDS ) Type XI : This type of Oral - Facial - Digital Syndrome is also known as Gabrielli Syndrome .
unwritten - Facial - Digital Syndrome ( OFDS ) Type XII : This type of Oral - Facial - Digital Syndrome is also called as Moran- Barroso Syndrome . Oral - Facial - Digital Syndrome ( OFDS ) Type XII is an highly uncommon condition . It is account that up till now only 1 mortal is affected by it .
unwritten - Facial - Digital Syndrome ( OFDS ) Type thirteen : Degner Syndrome is another name of Oral - Facial - Digital Syndrome ( OFDS ) Type XIII . Along with other OFDS symptom , unwritten - Facial - Digital Syndrome ( OFDS ) Type XIII also includes psychiatrical symptom in the patient.(8 )
Conclusion
Oral - facial - digital syndrome type 2 or OFSD Type II is a genetic disorderliness , which is quite rare ; hence , many may not be cognizant of its cause , symptom , effect and treatment . house of the patient may find it difficult to get in touch with the medical professionals who are specialists in this arena . Many formation may render a mortal with information refer to the syndrome . Though there are no specific treatment to unwritten - facial - digital syndrome type 2 or OFSD Type II , yet patient with OFDS syndrome should not lose hope ; and fight with this condition , because we are at least hallow to have slipway to manage symptom related to this syndrome . inquiry is still die on to rule the precise cause and also to get the solution of unwritten - Facial - Digital Syndrome ( OFDS ) case 2 . Till then , more and more awareness about unwritten - Facial - Digital Syndrome ( OFDS ) Type 2 should be propagate .
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