What is Filippi Syndrome?
Filippi Syndrome is an highly uncommon genetic pathologic term which is characterized by unnatural facial show , emaciated abnormalities with abnormalities of the fingers and toes . touched individuals may run to have severe mental retardation as well due to Filippi Syndrome .
Filippi Syndrome children have growth delays , with delays in reaching their developmental milestones . They may also have syndactyly of some of the finger and toe . Affected children also be given to have an abnormally small head .
This precondition follows an autosomal recessionary pattern of inheritance intend that two copy the bad gene one from each parent is ask for an person to originate Filippi Syndrome .
What are the Causes of Filippi Syndrome?
As stated , Filippi syndrome come after an autosomal recessionary pattern of inheritance meaning that two copies of the incorrect gene one from each parent is require for the exploitation of this condition . The accurate gene responsible for stimulate Filippi Syndrome has not yet been learn .
In some shell , touch on children with Filippi Syndrome have been born out of consanguineous marriages meaning that the father and female parent are origin relatives that increase the chance of gene defects which result in an offspring being born with conditions like Filippi Syndrome .
What are the Symptoms of Filippi Syndrome?
The primary presenting feature of Filippi Syndrome is holdup exhibited by the child in reaching developmental milestones , importantly low parturition weight , and an abnormally scant stature when equate to normal children of the same age .
There are also characteristic facial features see in children with Filippi Syndrome with an abnormally belittled head . There are also sure musculoskeletal abnormalities with presence of syndactylism of the finger and toe .
There may also be webbing of the skin between the digits of the finger which may be partial or complete as a resolution of Filippi Syndrome . The clear-cut facial features seen in child with this condition are high forehead , broad nozzle , and significantly lean upper mouth as a result of Filippi Syndrome .
Children with this condition also have mental retardation which may alter from being mild to extremely spartan which may get them to have difficulty in speaking , agreement , and have severely impaired ability to communicate with others as a upshot of Filippi Syndrome .
How is Filippi Syndrome Diagnosed?
A diagnosis of Filippi Syndrome may be distrust by looking at the characteristic features of the stipulation and a exhaustive clinical evaluation of the patient . The physician may then order specialised examination and advanced mental imagery subject in the form of CT and MRI scans to look at the irregularity see with this term . All the above test confirm the diagnosing of Filippi Syndrome .
How is Filippi Syndrome Treated?
The discourse of Filippi Syndrome is fundamentally symptomatic and supportive . This may require coordinated effort from a assortment of distinctiveness to let in pediatricians , orthopedists , talking to and speech specialists who can formulate a discussion program for the patient . OR may be required to correct some of the craniofacial abnormalities seen with this stipulation calculate on the severity and extent of the condition .
address and language therapists are quite utilitarian for children with speech communication and speech communication impairments due to mental retardation and may help in make them somewhat main in putting their persuasion across . It should be notice here that former diagnosing with early intervention is essential for a good treatment outcome for children with Filippi Syndrome .
