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Freeman Sheldon Syndrome (FSS)

Article
Diseases & Conditions
Congenital & Genetic Disorders
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Contributed byKrish Tangella MD, MBASep 15, 2018

What are the other Names for this Condition? (Also known as/Synonyms)

  • Craniocarpotarsal Dysplasia
  • Whistling Face-Windmill Vane Hand Syndrome
  • Windmill-Vane-Hand Syndrome

What is Freeman Sheldon Syndrome? (Definition/Background Information)

  • Freeman Sheldon Syndrome (FSS) is an uncommon genetic disorder affecting the bones and muscles. It is primarily characterized by a unique facial appearance with a small mouth, along with hand and feet deformations
  • An individual’s face, affected by the syndrome may resemble the face of a person, who appears to be ‘whistling’. For this reason, the syndrome is also known as Whistling-Face Syndrome
  • FSS manifests itself as a congenital contracture disorder, where many muscles and bones on the hands, feet, face, and spine, contract. This causes the body skeletal structure to have multiple distortions, curved spine, bent limbs and digits. The degree of severity of the condition, varies from one individual to another
  • This disorder restricts and impairs proper movement. The treatment of a Freeman Sheldon Syndrome affected child may include surgical corrections with physiotherapy to restore movement, in order to enable the child lead a near normal life
  • The condition does not cause progressive deterioration with age; however, constant support and remedial treatment measures may be required throughout one’s life. The prognosis for FSS is good, with appropriate treatment

Who gets Freeman Sheldon Syndrome? (Age and Sex Distribution)

  • Freeman Sheldon Syndrome is a rare genetic disorder affecting the newborn child; the condition is manifested at birth
  • FSS is uniformly distributed amongst all genders, races, and ethnicities; no particular preferences have been observed

What are the Risk Factors for Freeman Sheldon Syndrome? (Predisposing Factors)

The risk factor for Freeman Sheldon Syndrome includes:

  • Genetic factors play a major role in FSS. Those with a family history of the condition have a greatest risk. In some cases certain defective genes are inherited from the parents, sometimes the genes undergo defective mutations on their own spontaneously, during the prenatal stage leading to Freeman Sheldon Syndrome

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases ones chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Freeman Sheldon Syndrome? (Etiology)

Freeman Sheldon Syndrome is caused by a genetic mutation defect.

  • An error in gene mutation disrupts the working of a type of myosin (a protein found in muscle fibers that are responsible for muscle contraction and movement within cells)
  • This causes reduced functionality of the muscles and bone, leading to the development of abnormalities, during the growth phase of the fetus. Freeman Sheldon Syndrome is an outcome of this protein defect
  • An individual with FSS has a greater chance of handing down the disorder (and the gene) to their offspring. Sometimes, the disorder is manifested in the child as a result of the genes from both parents. However, in some cases, even if the problem genes are from a single parent, the condition may be manifested in the child
  • An individual may also develop FSS unexpectedly, irrespective of the fact that there is no family medical history of the illness. This is called spontaneous occurrence of Freeman Sheldon Syndrome.

What are the Signs and Symptoms of Freeman Sheldon Syndrome?

The degree of severity of the condition varies; however, the one distinctive sign of Freeman Sheldon Syndrome is the appearance of a ‘whistling face’, with pouted lips. Other symptoms due to deformities of the bones are:

  • Abnormal facial features that include: Deeply recessed ‘middle of the face’, small nose, large forehead with projecting temples, the eyes, nose, and the mouth are set far apart, ears are set lower, upper eyelids droop, dimpled chin (‘H’ or ‘Y’ shaped), small jaw, and tongue with restricted movement
  • Feet and hands are contracted at birth, with multiple bent fingers; feet may be bent downwards or inwards
  • Sideways curving spine
  • Short stature

Due to defects of the bones and muscles, the following signs and symptoms may also be additionally observed in Freeman Sheldon Syndrome:

  • Vision disorders
  • Hearing loss
  • Difficulty speaking and swallowing - speaking with a nasal tone
  • Walking, movement problems
  • Physical growth impairment
  • Mental disabilities, intellectual growth delays
  • Gastroesophageal reflux disease (GERD) during infancy; however, this usually gets better with age

How is Freeman Sheldon Syndrome Diagnosed?

A physical examination of the individual is performed, which includes gathering information related to family history of Freeman Sheldon Syndrome and personal medical history. The characteristic facial and limb features may help a physician suspect the disorder. There are no specific recommended tests for the diagnosis of Freeman Sheldon Syndrome.

Some of the diagnostic tests performed include:

  • Genetic analysis to detect gene mutation
  • Prenatal diagnosis (during pregnancy)
  • X-ray, to screen for bone defects
  • MRI scan of brain

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Freeman Sheldon Syndrome?

Complications that develop due to Freeman Sheldon Syndrome are usually a result of the severe bone and muscular defects that arise. Moreover, since the affected individuals are infants and very young children, it creates additional barriers to providing proper treatment.

  • In rare cases, young children develop serious respiratory, or central nervous system complications, which may prove to be fatal
  • Growth from childhood to adult and the hormonal changes involved, may affect the course of FSS symptoms
  • It is difficult to obtain cooperation for physical therapy treatment from young children (as they are afraid to move, fearing pain)
  • Individuals with severe forms of the syndrome, have to live with a constant pressure of handling their daily life. This can cause deep emotional and psychological distress

How is Freeman Sheldon Syndrome Treated?

Freeman Sheldon Syndrome cannot be cured. Proper supportive care with symptomatic treatment (and surgical intervention as necessary) with a modified lifestyle can help manage the disorder to a certain degree. The management measures for Freeman Sheldon Syndrome include:

  • Aggressive therapies are initiated on diagnosis of the condition, which include physical, speech, and occupational therapies
  • Rectifying defects using surgical procedures, in severe cases: These include surgical operations for correcting skull, limb deformities, and plastic surgeries for facial features
  • Deformed bones (spinal curve, bowed legs) may be corrected using reconstructive surgery
  • Physiotherapy, low-impact exercising (like swimming, use of light weights) to strengthen muscles and improve movement, have proven to be beneficial in individuals with Freeman Sheldon Syndrome
  • Wheelchairs, splints, crutches, and braces, are used to provide physical support and promote mobility

How can Freeman Sheldon Syndrome be Prevented?

  • Current medical research have not indicated effective preventive measures for Freeman Sheldon Syndrome occurrence
  • Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus during pregnancy) may help in understanding the risks better during pregnancy
  • If there is a family history of the condition, then genetic counseling will help assess risks, before planning for a child

What is the Prognosis of Freeman Sheldon Syndrome? (Outcomes/Resolutions)

  • The prognosis of Freeman Sheldon Syndrome is dependent upon the severity of the symptoms an individual is affected with. Those with serious central nervous system or respiratory problems, may have a poor outcome
  • Intensive treatment can help overcome the trials and difficulties of individuals with Freeman Sheldon Syndrome. This includes constant care, rigorous management therapies and medical support, a good diet and healthy lifestyle
  • With aggressive treatment, individuals are able to attend schools and colleges, take part in sports and other physical activities. Many can have a career, raise families, and lead a productive life

Additional and Relevant Useful Information for Freeman Sheldon Syndrome:

There are several voluntary organizations and support groups that provide help, encouragement and understanding to the people affected by Freeman Sheldon Syndrome.

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Krish Tangella MD, MBA

Pathology, Medical Editorial Board, DoveMed Team

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