What is Freeman-Sheldon Syndrome?
Freeman-Sheldon Syndrome is an extremely rare inherited pathological condition which is characterized by severe contractures of multiple joints which is usually seen at birth. There are also visible abnormalities of the head and face, skeletal defects 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 look as if the child is trying to whistle. The forehead of the child with Freeman-Sheldon Syndrome will also be quite wide with prominent cheekbones. The affected child will also have an underdeveloped jaw.
There will also be certain ocular abnormalities as a result of Freeman-Sheldon Syndrome such as palpebral fissures, strabismus, and ptosis. Children with Freeman-Sheldon Syndrome may also have speech and language development difficulties along with problems with eating due to swallowing difficulties.
Growth retardation and failure to thrive are also some of the common features of children with Freeman-Sheldon Syndrome. Certain children even have respiratory difficulties which may cause potentially serious complications 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 occurs due to random mutation in genes without a known cause.
In some cases this condition is inherited as an autosomal dominant trait meaning that inheriting one of the defective genes from any parent is good enough for a child to develop Freeman-Sheldon Syndrome. Mutation in the MYH3 gene is believed to be responsible for development of Freeman-Sheldon Syndrome.
What are the Symptoms of Freeman-Sheldon Syndrome?
The classic presenting features of Freeman-Sheldon Syndrome are visible abnormalities of the craniofacial areas. There are also visible defects of the hands and feet associated 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 small tongue. Additionally, children with Freeman-Sheldon Syndrome will have a nasal speech because of limited movement of the soft palate.
There may also be other malformations involving the mouth and the jaw resulting in decreased ability of the child to suck along with problems speaking, frequent bouts of vomiting, dysphagia which will also result in the child not being able to gain enough weight appropriate for age, and also have respiratory difficulties.
Ocular abnormalities in the form of palpebral fissures and ptosis are also one of the features of Freeman-Sheldon Syndrome. Club foot is also one of the skeletal deformities seen in children with Freeman-Sheldon Syndrome along with kyphoscoliosis and contractures of multiple joints including knees and shoulders which result in lack of adequate movement in these areas.
How is Freeman-Sheldon Syndrome Diagnosed?
To diagnose Freeman-Sheldon Syndrome, the treating physician will conduct a detailed history taking and perform a thorough physical examination which will show the characteristic features of Freeman-Sheldon Syndrome.
Additionally, advanced radiological studies in the form of CT and MRI scans may be done to check the extent of the deformity in the craniofacial areas and the deformities of the lower extremities.
Since the symptoms of Freeman-Sheldon Syndrome differ from individual to individual certain deformities may not be evident at the time of examination in certain patients.
A specialized test in the form of an EMG or electromyography will be done to check the status of the muscles. In some cases a tissue biopsy may be also performed to confirm the diagnosis of Freeman-Sheldon Syndrome.
How is Freeman-Sheldon Syndrome Treated?
There is no cure for Freeman-Sheldon Syndrome and treatment is basically symptomatic and supportive. The treatment requires a multidisciplinary effort from a team of specialists to include pediatricians, orthopedists, neurologists, neurosurgeons, dentists, and ophthalmologists who will sit together and formulate a treatment plan that will be best suited for the affected child.
Surgery may be required to correct certain skeletal deformities and the deformity of the mouth where the mouth appears abnormally small. This is required because if the mouth is not able to be expanded then the problems with the teeth will not be able to be dealt with.
Speech therapy may be involved to improve speech and swallowing problems. As stated, surgery may be required for treating conditions like club feet, other craniofacial deformities, and abnormalities of the hands and feet.
Aggressive physical therapy may improve the child's ability to walk unassisted and make the child more independent. It is highly recommended that treatment begins as soon as the diagnosis is confirmed so as to get the best possible results for the child suffering from Freeman-Sheldon Syndrome.