Last Modified: 16 May 2011
Definition
Freeman-Sheldon syndrome (FSS) or 'whistling face' is a muscle disorder that limits muscles' ability to move well; this disorder happens with widely varying degrees of severity. The person's face muscles don't move well and often have a mask-like and whistling appearance. Muscles in other places may be tightly fixed in one position, not allowing some muscles to get strong and pulling others tight. Persons with FSS are born with the disorder, and it can be diagnosed before birth (with genetic testing or ultrasound) and is noticeable at birth. There is no known link with environmental or parental factors, such as exposure to illnesses, toxins, drugs, or harsh substances. FSS can be passed on from a person who has the disorder or the gene that is linked to FSS to a child. Persons with FSS have normal or above intelligence. Isolated cases of mental retardation have been reported, but these are doubtful to be cases of true FSS.
Symptoms
Persons with FSS have limited movement in joints of two or more body areas, often the hands and feet. Persons also have problems with their face, like small very mouth, over-crowded teeth, very high roof of the mouth, very small tongue, drooping eyelids, cross-eyed problem, sunken appearance and widely spaced eyes, low set and tilted ears, mild to moderate hearing loss, 'H' or 'Y' shaped chin dimple, under-developed chin and jaw, wide nasal bridge, under-developed nostrils, and flat mid-face.
Persons may be swayback, humpback, or have scoliosis. Persons with FSS may also have a short neck that doesn't move well and has extra skin giving a 'webbed' appearance. Persons may also have trouble with dislocations in different joints, such as knees and hips.
Care
Persons with FSS benefit most from physical therapy and braces. Surgery may be of benefit, if used judiciously and limited in scope. In almost all cases, surgery should never be used to correct foot deformities in the syndrome. Most use of surgery should focus on craniofacial deformities. Psychotherapy is likely to be required on at least some level, and early psychiatric evaluation should be done to get an early diagnosis to allow early treatment to limit the extent of unchecked mental health problems. |
|
