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$Unique_ID{BRK03754}
$Pretitle{}
$Title{Freeman-Sheldon Syndrome}
$Subject{Freeman-Sheldon Syndrome Whistling Face Syndrome Whistling
Face-Windmill Vane Hand Syndrome Craniocarpotarsal Dystrophy FSS
Arthrogryposis Multiplex Congenita}
$Volume{}
$Log{}
Copyright (C) 1988, 1989, 1992 National Organization for Rare Disorders,
Inc.
442:
Freeman-Sheldon Syndrome
** IMPORTANT **
It is possible the main title of the article (Freeman-Sheldon Syndrome)
is not the name you expected. Please check the SYNONYMS listing on the next
page to find alternate names, disorder subdivisions, and related disorders
covered by this article.
Synonyms
Whistling Face Syndrome
Whistling Face-Windmill Vane Hand Syndrome
Craniocarpotarsal Dystrophy
FSS
Information on the following disease can be found in the Related
Disorders section of this report:
Arthrogryposis Multiplex Congenita
General Discussion
** REMINDER **
The information contained in the Rare Disease Database is provided for
educational purposes only. It should not be used for diagnostic or treatment
purposes. If you wish to obtain more information about this disorder, please
contact your personal physician and/or the agencies listed in the "Resources
section of this report.
Freeman-Sheldon Syndrome is a very rare genetic disorder characterized by
abnormal muscle and skeletal development and is present at birth. The face,
eyes, hands, and feet are most commonly affected. Intelligence is often
within the normal range although some mental deficiency may occur.
Symptoms
Freeman-Sheldon Syndrome patients are affected by stiffened muscles. Other
symptoms include a round forehead, a flat, expressionless face, full cheeks,
and a small mouth giving a "whistling" appearance. The nose appears small
with flared nostrils, and a broadened bridge with abnormal skin folds present
on each side. Eyes are deep-set, may not be focused in the same direction,
and tend to squint. The distance between the upper lip and the nose may be
abnormally long. An "H" shaped dimple can appear on the chin. The tongue is
small, the roof of the mouth is high, and speech is nasal sounding. During
infancy, vomiting and swallowing difficulties may result in failure to
thrive.
The second through fifth fingers are permanently bent toward contracted
thumbs, and the skin is thickened over the first finger. Clubfeet with
contracted toes and an open or unfused spine (Spina Bifida) may also occur.
(For more information on this disorder, choose "Spina Bifida" as your search
term in the Rare Disease Database). These deformities can limit usage of
involved hands and/or feet. Intelligence is usually normal although some
mental deficiency may develop. Abnormalities in the interior bone structure
of the skull are often present. In males, a hernia in the genital area
(inguinal) or undescended testes may also be present. Ridges across the
lower forehead, small stature, low birth weight, curvature of the spine
(scoliosis) or dislocation of the hip may also occur in some children with
Freeman-Sheldon Syndrome.
Causes
Freeman-Sheldon Syndrome is inherited as an autosomal dominant trait. (Human
traits including the classic genetic diseases, are the product of the
interaction of two genes for that condition, one received from the father and
one from the mother. In dominant disorders, a single copy of the disease
gene (received from either the mother or father) will be expressed
"dominating" the normal gene and resulting in appearance of the disease. The
risk of transmitting the disorder from affected parent to offspring is 50%
for each pregnancy regardless of the sex of the resulting child.)
Affected Population
Approximately thirty-six cases of Freeman-Sheldon Syndrome have been
identified in the medical literature worldwide since it was first recognized
in 1938 by two English physicians, Drs. Freeman and Sheldon. The disorder
affects males and females in equal numbers.
Related Disorders
Symptoms of the following disorder can be similar to those of Freeman-Sheldon
Syndrome. Comparisons may be useful for a differential diagnosis:
Arthrogryposis Multiplex Congenita is a congenital disease characterized
by reduced mobility of multiple joints at birth due to proliferation of
fibrous tissue (fibrous ankylosis). The range of motion of all joints is
limited or fixed. Shoulders are bent inward and internally rotated, the
elbows are extended, and the wrists and fingers are bent. The hips may be
dislocated and are usually slightly bent, the knees are extended, and the
heel is bent inward from the midline of the leg while the foot is bent inward
at the ankle (clubfoot). Intelligence is usually normal and lack of facial
expression gives a sad appearance. (For more information on this disorder,
choose "Arthrogryposis" as your search term in the Rare Disease Database).
Therapies: Standard
Treatment of Freeman-Sheldon Syndrome usually involves multiple surgeries
which can be difficult due to muscle stiffness, thickened tissues or the use
of splints or casts to improve bent fingers or feet. Cosmetic facial or
hand/foot restructuring surgery can improve appearance. Correction of the
thumb deformity may be the first surgery in the long-term treatment of many
cases. Genetic counseling will be of benefit for patients and their
families. Other treatment is symptomatic and supportive.
Therapies: Investigational
Several Freeman-Sheldon Syndrome (FSS) patients with a family history of
Malignant Hyperthermia have developed spasms of the muscles that affect jaw
movement as well as generalized muscle rigidity after the administration of
anesthesia with known Malignant Hyperthermia triggering agents (halothane and
succinylcholine). It has been suggested that non-triggering Malignant
Hyperthermia agents should be considered for all patients with FSS.
The University of Virginia Department of Plastic Surgery is reviewing
surgical procedures for FSS. The address is:
Craniofacial Abnormalities
Dept. of Plastic and Maxillofacial Surgery
University of Virginia Medical Center
Box 376
Charlottesville, VA 22908
(804) 924-5801
The University of Utah Division of Pediatric Genetics has undertaken a
gene mapping study of FSS. The address is:
Freeman-Sheldon Gene Mapping Project
Division of Pediatric Genetics
MREB 413
University of Utah Medical Center
Salt Lake City, UT 84112
(801) 581-8943
This disease entry is based upon medical information available through
November 1992. Since NORD's resources are limited, it is not possible to
keep every entry in the Rare Disease Database completely current and
accurate. Please check with the agencies listed in the Resources section for
the most current information about this disorder.
Resources
For more information on Freeman-Sheldon Syndrome, please contact:
National Organization for Rare Disorders (NORD)
P.O. Box 8923
New Fairfield, CT 06812-1783
(203) 746-6518
Freeman-Sheldon Parent Support Group
509 E. Northmont Way
Salt Lake City, UT 84103
(801) 364-7060
The National Arthritis and Musculoskeletal and Skin Diseases Information
Clearinghouse
Box AMS
Bethesda, MD 20892
(301) 495-4484
For genetic information, and genetic counseling referrals, please
contact:
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
(914) 428-7100
Alliance of Genetic Support Groups
35 Wisconsin Circle, Suite 440
Chevy Chase, MD 20815
(800) 336-GENE
(301) 652-5553
References
OCULAR ABNORMALITIES IN THE FREEMAN-SHELDON SYNDROME: M. O'Keefe, et al.; Am
J Ophthalmol (September 1986, issue 102(3)). Pp. 346-348.
NEW EVIDENCE FOR GENETIC HETEROGENEITY OF THE FREEMAN-SHELDON (FS)
SYNDROME: M. Sanchez, et al.; Am J Med Genet (November 1986, issue 25(3)).
Pp. 507-511.
FREEMAN-SHELDON SYNDROME: A DISORDER OF CONGENITAL MYOPATHIC ORIGIN? :
J. Vanek, et al.; J Med Genet (June 1986, issue 23(3)). Pp. 231-236.
MUSCLE RIGIDITY FOLLOWING HALOTHANE ANESTHESIA IN TWO PATIENTS WITH
FREEMAN-SHELDON SYNDROME: Roger Jones, M.D., et al.; Anesthesiology
(September 1992, issue 77(3)). Pp. 599-600.