What is Freeman-Sheldon Syndrome & How is it Treated?

What is Freeman-Sheldon Syndrome?

Freeman - Sheldon Syndrome is an extremely rare inherited pathological status which is characterized by severe contracture of multiple joints which is ordinarily seen at birth . There are also seeable abnormalities of the head and face , skeletal flaw of the hands and feet and other malformations .

A child with Freeman - Sheldon Syndrome will have lips which will be pursed or in a position which will bet as if the baby is trying to whistle . The brow of the kid with Freeman - Sheldon Syndrome will also be quite wide with spectacular jugal bone . The unnatural child will also have an developing jaw .

There will also be certain ocular abnormality as a result of Freeman - Sheldon Syndrome such as palpebral fissures , strabismus , and ptosis . tike with Freeman - Sheldon Syndrome may also have speech and linguistic communication exploitation trouble along with problems with eating due to swallowing difficulties .

ontogeny deceleration and failure to fly high are also some of the coarse feature of children with Freeman - Sheldon Syndrome . sure children even have respiratory difficulty which may cause potentially serious tortuousness as a result of Freeman - Sheldon Syndrome .

What are the Causes of Freeman-Sheldon Syndrome?

There is no known cause for Freeman - Sheldon Syndrome ; however in majority of the cases it take place due to random mutant in cistron without a known cause .

In some lawsuit this condition is inherited as an autosomal dominant trait entail that inheriting one of the bad genes from any parent is good enough for a child to develop Freeman - Sheldon Syndrome . chromosomal mutation in the MYH3 gene is believed to be creditworthy for development of Freeman - Sheldon Syndrome .

What are the Symptoms of Freeman-Sheldon Syndrome?

The Greco-Roman presenting features of Freeman - Sheldon Syndrome are visible abnormalities of the craniofacial areas . There are also visible defects of the hands and foot affiliate with Freeman - Sheldon Syndrome . The symptoms may vary from individual to individual .

Children with Freeman - Sheldon Syndrome will tend to have inadequately aligned teeth with abnormal crowding . They will also have abnormally pocket-size spit . to boot , minor with Freeman - Sheldon Syndrome will have a pinched speech because of circumscribed movement of the delicate roof of the mouth .

There may also be other malformation involving the oral fissure and the jaw lead in lessen power of the child to sop up along with problem speaking , frequent bout of vomiting , dysphagia which will also result in the child not being able-bodied to advance enough free weight appropriate for age , and also have respiratory difficulties .

Ocular abnormality in the form of palpebral fissures and ptosis are also one of the characteristic of Freeman - Sheldon Syndrome . Club foot is also one of the gaunt deformities see in tike with Freeman - Sheldon Syndrome along with kyphoscoliosis and contracture of multiple joints including knees and shoulders which result in lack of passable movement in these areas .

How is Freeman-Sheldon Syndrome Diagnosed?

To name Freeman - Sheldon Syndrome , the treating physician will channel a detailed history take and perform a thorough strong-arm examination which will show the characteristic features of Freeman - Sheldon Syndrome .

Additionally , advanced radiological studies in the form of CT and MRI scan may be done to check up on the extent of the disfigurement in the craniofacial region and the disfigurement of the lower extremities .

Since the symptom of Freeman - Sheldon Syndrome differ from individual to individual sure deformities may not be evident at the fourth dimension of examination in certain patients . A specialized tryout in the form of an EMG or electromyography will be done to arrest the position of the muscles . In some cases a tissue biopsy may be also performed to corroborate the diagnosis of Freeman - Sheldon Syndrome .

How is Freeman-Sheldon Syndrome Treated?

There is no cure for Freeman - Sheldon Syndrome and discussion is basically symptomatic and supportive . The treatment requires a multidisciplinary effort from a squad of specialists to let in pediatrist , orthopedists , neurologists , neurosurgeons , dentists , and eye doctor who will baby-sit together and give voice a discourse programme that will be well suited for the affected child .

Surgery may be required to correct sealed bony deformity and the deformity of the mouth where the oral cavity appears abnormally pocket-size . This is require because if the sassing is not able to be expanded then the problem with the dentition will not be able to be deal with .

Speech therapy may be involved to improve speech and swallowing problems . As express , operating theater may be required for treating conditions like club feet , other craniofacial malformation , and freakishness of the hands and feet .

fast-growing forcible therapy may ameliorate the nipper ’s ability to walk unbacked and make the child more autonomous . It is highly recommend that discussion set about as soon as the diagnosis is confirmed so as to get the better potential resolution for the child suffer from Freeman - Sheldon Syndrome .