What is Whistling Face Syndrome?
Whistling Face Syndrome is an highly rarified inherited pathological consideration which is qualify by clear-cut facial characteristic to admit puckered sass which will take care as if the child is trying to sing . This is how this disorderliness stick its name .
to boot , there are also certain other characteristic of Whistling Face Syndrome which includes multiple joint contractures which is present at birth , certain musculoskeletal abnormalities of the hand and foot , high arched roof of the mouth , abnormally small jaw , and a very short clapper .
There are also sealed opthalmic abnormalities observe in children with Whistling Face Syndrome which include deep located eyes , palpebral fissures , and ptosis . Speech impairment is also one of the features of Whistling Face Syndrome along with swallowing and speech abnormalities .
child with Whistling Face Syndrome also have delays in achieving developmental milestones . In some cases children with Whistling Face Syndrome also have sealed respiratory difficulties which may head to certain life threatening complication .
Whistling Face Syndrome follow an autosomal dominant form of inheritance meaning that only one copy of the defective gene is enough for a nestling to get Whistling Face Syndrome .
What are the Causes of Whistling Face Syndrome?
Majority of the cases of Whistling Face Syndrome occurs due to sporadic mutation in gene or de novo mutations while other event of this condition occurs as an autosomal dominant trait . In some rare cases , an autosomal recessive radiation diagram of heritage or Mutation in the MYH3 factor is responsible for the evolution of Whistling Face Syndrome .
What are the Symptoms of Whistling Face Syndrome?
The classic presenting lineament of whistle Face Syndrome is the distinct facial feature that the tike will demonstrate at birth in which the shaver will have a knit lip which will look as if the child is seek to sing .
The affected child will also have a eminent arched palate , an abnormally pocket-sized jaw , malaligned teeth , and a very lowly spit . Affected child with Whistling Face Syndrome will also tend to have a nasal speech as a result of restricted movement of the palate .
Also , abnormality in the jaw result in the child not being able to suck in adequately . Speech delays are also common feature of Whistling Face Syndrome . problem with swallowing and feeding difficulties are also common in children with Whistling Face Syndrome .
Respiratory difficulties are also quite uncouth for children with Whistling Face Syndrome which may sometimes lead to potentially serious complication . to boot , as a result of problems with swallowing and feeding there are chances that a strange body may enter and get lodged in the lung which may result in severe lung infections . There are also sure ocular abnormality which are present in children with Whistling Face Syndrome . They may include palpebral fissures , epicanthal folds , ptosis along with side set up heart . Children with Whistling Face Syndrome may also have underdeveloped anterior naris .
There are also certain musculoskeletal abnormalities which can be seen in tyke with Whistling Face Syndrome . They may let in camptodactyly or ulnar deviation . There may also be contracture of various joint of the eubstance . Club metrical foot is also one of the clinical feature of speech of children with Whistling Face Syndrome which may result in ambulation difficulties .
Kyphoscoliosisis yet another symptom that is seen commonly in children with Whistling Face Syndrome . Delays in growth and failure to flourish are also sure rough-cut symptom go steady in children with Whistling Face Syndrome .
How is Whistling Face Syndrome Diagnosed?
The diagnosis of Whistling Face Syndrome can be made as soon as the minor is born with the characteristic facial lineament in which the lips of the child will be puckered as if the child is trying to sing .
Additionally , other musculoskeletal and facial features also can confirm the diagnosis of Whistling Face Syndrome . Advanced tomography study in the kind ofCTandMRIscans can also be done to confirm the presence of musculoskeletal abnormalities and sustain the diagnosis of Whistling Face Syndrome .
to boot an electromyogram can be done which may discover underdevelopment of certain muscular tissue of the body which can also sustain the diagnosis of Whistling Face Syndrome . Muscle tissue biopsy in certain cases may also be done to confirm the diagnosing of Whistling Face Syndrome .
How is Whistling Face Syndrome Treated?
The treatment of Whistling Face Syndrome is fundamentally symptomatic and direct towards the symptoms exhibit by the patient . The treatment requires multidisciplinary efforts from a variety of medical specialist to include pediatricians , orthopaedist , and specialists in craniofacial abnormalities , dentists along with spoken communication and speech communication healer among others who can formulate a treatment plan well beseem for the patient with Whistling Face Syndrome .
Surgery is the most preferable treatment for the craniofacial abnormality including correction of the puckered lips . The abnormally small mouth may also be treated with surgery . Once the rima oris becomes more or less normal in appearing then other dental abnormalities like malaligned teeth may be deal by the dentist .
Surgery may also be required to regale the ocular abnormalities that are a part of Whistling Face Syndrome . Surgery may also be necessitate to plow esophageal abnormalities to treat the swallowing and eating difficulties . delivery therapy is also quite beneficial in amend feeding difficulty as a result of Whistling Face Syndrome .
Surgery will also be required for other musculoskeletal abnormalities like club feet and other deformities due to Whistling Face Syndrome . The affected child will also expect forcible therapy mail service surgical process to gain muscle strength and ameliorate ability to ambulate and make the child more independent .
Other than this , for the developmental hold as a result of Whistling Face Syndrome , speech and occupational therapy may be of great welfare in make the child more independent and permit him or her to put his or her sentiment across as much as possible .
The ulnar deviation which is also a characteristic feature of Whistling Face Syndrome tends to improve as the child grows and does not require any surgical routine to objurgate it . It is important to notice here that early diagnosing and discussion is a must for best potential convalescence of a child from Whistling Face Syndrome .
