Definition

What is Freeman-Sheldon syndrome?

Freeman Sheldon syndrome is a disorder present from birth (congenital) characterized by joint deformities (contractures) that restrict movement in the hands and feet and abnormalities of the head and face. The characteristic facial feature is a small mouth (microstomia) with pursed lips, giving the appearance of a “whistling face.”

How common is Freeman-Sheldon syndrome?

Please discuss with your doctor for further information.

Symptoms

What are the symptoms of Freeman-Sheldon syndrome?

The classic presenting features of Freeman-Sheldon Syndrome are:

  • Abnormalities of the craniofacial areas
  • Defects of the hands and feet
  • Inadequately aligned teeth with abnormal crowding
  • Abnormally small tongue
  • Nasal speech because of limited movement of the soft palate
  • Malformations involving the mouth and the jaw, which results inproblems 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
  • Skeletal deformities: club foot along with kyphoscoliosis and contractures of multiple joints including knees and shoulders which result in lack of adequate movement in these areas

There may be some symptoms not listed above. If you have any concerns about a symptom, please consult your doctor.

When should I see my doctor?

If you have any signs or symptoms listed above or have any questions, please consult with your doctor. Everyone’s body acts differently. It is always best to discuss with your doctor what is best for your situation.

Causes

What causes Freeman-Sheldon syndrome?

There is no known cause for Freeman-Sheldon Syndrome. Majority of the cases occur due to random mutation in genes without a known cause.

In some cases this condition is inherited as an autosomal dominant trait. This means 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.

Risk factors

What increases my risk for Freeman-Sheldon syndrome?

Please consult with your doctor for further information.

Diagnosis & treatment

The information provided is not a substitute for any medical advice. ALWAYS consult with your doctor for more information.

How is Freeman-Sheldon syndrome diagnosed?

Freeman Sheldon syndrome may be suspected based on medical history and physical examination which reveal characteristic facial features. Imaging studies, such as CT scan and X-ray be be helpful to determine the presence and severity of features. Genetic testing may be useful to confirm a suspected diagnosis; however, not all individuals with Freeman Sheldon syndrome have a mutation in the MYH3 gene.

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.

Lifestyle changes & home remedies

What are some lifestyle changes or home remedies that can help me manage Freeman-Sheldon syndrome?

If you have any questions, please consult with your doctor to better understand the best solution for you.

Hello Health Group does not provide medical advice, diagnosis or treatment.

Sources

Review Date: February 11, 2018 | Last Modified: February 11, 2018

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