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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. People with this syndrome have a small mouth (microstomia) with pursed lips, giving the appearance of a "whistling face." Other facial features may include a prominent forehead and brow ridges, a short nose and area between the nose and mouth, widely spaced eyes (hypertelorism), a narrowing of the eye opening (blepharophimosis), droopy eyelids (ptosis), and a small tongue (microglossia) and jaw (micrognathia). People with Freeman Sheldon syndrome often have speech, eating, and respiratory problems and may also experience hearing loss, and growth and development delay. Other symptoms include club foot, joint contracture, hand and feet defects, and scoliosis. There is an increased risk for individuals with this disorder to develop a severe reaction to certain drugs used during surgery (malignant hyperthermia).
Freeman Sheldon syndrome can be caused by mutations in the MYH3 gene; however, not all individuals have a mutation within this gene. Some cases are inherited in an autosomal dominant manner, while others are inherited in an autosomal recessive manner, and still others occur randomly with no apparent cause (sporadically). Although there is no specific treatment or cure, it is possible to manage the symptoms. A team of doctors or specialists is often needed to figure out the treatment options for each person.
Source: GARD Last updated on 05-01-20
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.
Last updated on 05-01-20
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