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What is Holoprosencephaly?
Holoprosencephaly is a fetal abnormality of the brainpower in which the brain of the foetus remains underdeveloped and does not divide into two hemispheres which is the actual average . Holoprosencephaly can ensue in the way the face and question of the sister develops at the time of birth . Holoprosencephaly has been divided into four types bet on the severity of the condition .
These eccentric are alobar , semi - lobar , lobar , and middle interhemispheric character Holoprosencephaly . The more severe the condition is the more severe the deformity of the face and head will be of the child due to Holoprosencephaly . Children with the most severe eccentric of Holoprosencephaly tend to have only one optic and the nasal social system of the nose is vasiform located above the eye .
In the less severe form of Holoprosencephaly both optic are present but are super close to each other . Such child will have intellectual disability and watch problems and will always require special education . The intellect for Holoprosencephaly as of yet is not known but there are certain transmitted factors which studies suggest may play a part in growing of Holoprosencephaly .
The prognosis for child with Holoprosencephaly is extremely inadequate and in severe forms of this stipulation the child is usually a stillbirth or may at maximal survive till six months of spirit as a result of Holoprosencephaly .
What are the Causes of Holoprosencephaly?
As stated above , the precise cause of Holoprosencephaly is still not known but some studies hint that the abnormality occurs within the first few week of pregnancy . Onset of diabetes when the female person is pregnant puts the foetus at risk for have Holoprosencephaly , although in majority of the face of Holoprosencephaly there is no known intrauterine case for it .
Some discipline suggest a genetic part in the maturation of Holoprosencephaly . It has been see that about 40 % of children born with this precondition have a chromosome abnormality of which the most common chromosome abnormality is a precondition called trisomy 13 in which there are three copy of chromosome 13 instead of the common 2 , one from each parent . In some cases , there is a variety in a specific gene which have the cistron to work abnormally lead in development of Holoprosencephaly .
What are the Symptoms of Holoprosencephaly?
The symptoms of Holoprosencephaly motley depending on the severeness of the condition and to the category to which the condition belongs to . Holoprosencephaly can present within a broad variety of clinical rigorousness . As state above , Holoprosencephaly is split into four subtypes depending on the extent the separation of the cerebral hemisphere acquire place and as such the symptoms are different for each subtype .
Symptoms of Alobar Holoprosencephaly : In this form of Holoprosencephaly , there is absolutely no section of the brain and as such the fry tends to have just one centre , tubular shaped nasal consonant structure , cleft backtalk which may be unilateral or two-sided , and flattened nose
symptom of Semi - Lobar Holoprosencephaly : In this sort of Holoprosencephaly , the part of the hemispheres come but the left cerebral hemisphere is fused into the right hemisphere in the head-on and parietal lobes . fry who fall into the category of Holoprosencephaly will have very eyes that are very close to each other and the eyeballs may be abnormally small or in some case even absent . Additionally , the bridgework and the tip of the nozzle will be flatten and there will be presence of cleft sass , one nostril , and a cleft roof of the mouth .
symptom of Lobar Holoprosencephaly : In this configuration of Holoprosencephaly , the brain gets divided into two hemisphere but the intellectual hemisphere is fused . Symptoms may let in isobilateral cleft back talk , eyes which are very close-fitting to each other , and flattened nose .
Symptoms of Middle Interhemispheric Holoprosencephaly : In this bod of Holoprosencephaly , the brain is fuse from the middle and symptoms let in eyes that are very cheeseparing to each other and flatten and narrow nose .
to boot child with Holoprosencephaly will tend to have a variety of other symptoms as well which let in :
How is Holoprosencephaly Diagnosed?
Since Holoprosencephaly is a defect which can be easy fancy at the nascence of the child , there are no definitive test to confirm the diagnosis ; however , by image studies like an MRI or CT scan of the mind the extent of the disease and its subtype can be diagnosed . Additionally , Holoprosencephaly can also be diagnosed prenatally by abdominal ultrasound of the mother which will clearly show the mental defectiveness in the facial features confirming the diagnosis of Holoprosencephaly .
What is the Treatment for Holoprosencephaly?
The discussion for Holoprosencephaly is usually supportive and specific to the deformity that the child has and thus depend on a casing to case basis . To name any pituitary abnormalities an valuation by an endocrinologist may be done . For treatment of seizures , medications can be given to control them and thus a neurologist needs to be consulted also .
Plastic surgery needs to be confer with for correction of scissure brim and palate and reconstruct other facial deformities that are a part of Holoprosencephaly . For developmental delays , a specializer in this force field of aesculapian scientific discipline can be of great help in aid the parent and the child .
All in all , treatment of Holoprosencephaly demand a multidisciplinary approach to include brain doctor , plastic surgeons , limited Department of Education teacher , and psychologist who can formulate a plan on how to easily deal the child and keep him or her comfortable during handling of Holoprosencephaly . It is a very tough for the parent of the affected child to contend up with the disease appendage and hence counseling Roger Sessions are also quite helpful for parents who have a child with Holoprosencephaly .
What is the Prognosis or Life Expectancy in Holoprosencephaly?
The prognosis of Holoprosencephaly is varying and depends on the subtype of the disease condition . The alobar configuration of Holoprosencephaly which is the most severe form has the most poor prognosis and majority of children do not survive past the six months mark . The much milder affected fry may survive up until a year or more . tiddler with semi - lobar or lobar subtype may survive for about two years post the diagnosis of Holoprosencephaly .
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