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Freeman-Sheldon syndrome is a rare inherited disorder characterized by multiple contractures (i.e., restricted movement around two or more body areas) at birth (congenital), abnormalities of the head and face (craniofacial) area, defects of the hands and feet, and skeletal malformations. Craniofacial abnormalities may consist of characteristic facial features that cause the individual to appear to be whistling. These features include an extremely small puckered mouth (microstomia); a "full" forehead appearance, unusually prominent cheeks; and thin, pursed lips. Affected infants may also have an unusually flat middle portion of the face, a high roof of the mouth (palate), an unusually small jaw (micrognathia), an abnormally small tongue (microglossia), and/or a raised, scar-like mark in the shape of an "H" or a "V" extending from the lower lip to the chin. Affected infants often have abnormalities affecting the eyes including widely-spaced deep-set eyes, crossed eyes (strabismus), and/or downslanting eyelid folds (palpebral fissures). Malformations of the hands and feet are also characteristic of Freeman-Sheldon syndrome. Children with Freeman-Sheldon syndrome may also exhibit speech impairment; swallowing and eating difficulties; vomiting; failure to grow and gain weight at the expected rate (failure to thrive); and/or respiratory problems that may result in life-threatening complications. Freeman-Sheldon syndrome can be inherited as an autosomal dominant genetic trait. However, most cases occur randomly with no apparent cause (sporadically).
Freeman-Sheldon syndrome is characterized by abnormalities of the head and face (craniofacial) area, defects of the hands and feet, and skeletal malformations. Symptoms and physical findings associated with this disorder are usually present at birth (congenital) and may vary greatly from case to case.
Infants with Freeman-Sheldon syndrome exhibit various abnormalities of the head and face (craniofacial) area including an unusually small puckered mouth (microstomia) that appears as if the infants are attempting to whistle. Affected infants have an unusually flat middle portion of the face, a "masking" or immobile facial appearance, full cheeks, a high roof of the mouth (palate), an unusually small jaw (micrognathia), improperly aligned teeth (malocclusion), abnormal crowding of the teeth, and/or an abnormally small tongue (microglossia). In some cases, infants with Freeman-Sheldon syndrome have a raised scar-like mark in the shape of an "H" or a "Y" extending from the lower lip to the bottom of the chin. In addition, affected children may have a nasal quality to their voice (nasal speech) due to limited movement of the soft palate. Malformations of the mouth and jaw may cause several other complications including a poor or diminished ability to suck; speech abnormalities; vomiting; difficulty swallowing (dysphagia) and eating, resulting in failure to grow and gain weight at the expected rate (failure to thrive); and/or respiratory problems that, in some cases, may lead to life-threatening complications. In addition, swallowing and feeding difficulties may cause foreign material (e.g., food or vomit) to be inhaled (aspirated) into the lungs, which may result in severe lung infections (aspiration pneumonia).
Several abnormalities of the eyes may be present in individuals with Freeman-Sheldon syndrome. In most cases, affected infants have widely spaced eyes (ocular hypertelorism) that are deeply-set and/or crossed (strabismus). In some cases, affected infants may also have abnormal folds of skin between the upper eyelid and the nose (epicanthal folds), downslanting eyelid folds (palpebral fissures), and/or droopy upper eyelids (ptosis). In addition, the space between the upper and lower eyelids may be unusually narrow (blepharophimosis).
Other characteristic facial features associated with Freeman-Sheldon syndrome may include malformations of the nose. The nose may be unusually small with narrow, underdeveloped nostrils (nasi alae). In addition, the bridge of the nose may be abnormally broad and there may be an unusually long vertical gap between the upper lip (philtrum) and the nose.
Several malformations affecting the hands and feet may be present in infants with Freeman-Sheldon syndrome. Certain fingers may be permanently flexed (camptodactyly) outward away from the thumb (ulnar deviation). In contrast, the thumbs may be flexed inward toward the palm (adducted). Flexion of the fingers and thumbs may be caused by permanent fixation (contracture) of the joints between the fingers and the palms (metacarpophalangeal joints). These permanently flexed fingers are known as the "windmill vane position." In addition, some affected infants may have abnormally thick skin and underlying tissue (subcutaneous) on the surface of the hands.
Infants with Freeman-Sheldon syndrome also exhibit deformities of the feet, including a form of club foot where the heel of the foot may be turned inward toward the body while the rest of the foot is bent downward and inward (talipes equinovarus). In most cases, this deformity affects both feet (bilateral), although in some cases it affects only one foot (unilateral). Club foot may cause walking difficulties.
Infants with Freeman-Sheldon syndrome often have skeletal abnormalities including progressive and often severe front-to-back and side-to-side curvature of the spine (kyphoscoliosis); contractures of the knees, shoulders, and/or hips, resulting in limited movement of these areas; and/or dislocation of the hips and the head of one of the forearm bones (radius). In some cases, degeneration (atrophy) of the muscles in the forearms and lower legs may also occur.
In some cases, infants with Freeman-Sheldon syndrome experience delayed growth after birth (postnatal growth deficiency). Intelligence and cognition are typically unaffected in children with Freeman-Sheldon syndrome. In some cases, there may be slight delays in attaining motor milestones (e.g., head control, rolling over). Additional findings that are sometimes associated with this disorder may include incomplete closure of bones in the spinal column surrounding the spinal cord (spina bifida occulta), protrusion of a portion of the intestine through an abnormal opening in the muscular wall of the abdomen into the groin area (inguinal hernia), epileptic seizures, hearing loss, and/or webbing of the neck or shoulders (pterygium colli or axilla). (See spina bifida in the "related disorders" section of this report.)
Additionally, some types of anesthesia administered to people with Freeman-Sheldon syndrome may trigger malignant hyperthermia which can be an acute life threatening condition. It is therefore important for surgeons and dentists to be aware that certain types of anesthesia should be avoided in individuals with Freeman-Sheldon syndrome.
Malignant hyperthermia is a disorder in which a person does not react appropriately to certain drugs due to a genetic abnormality. Affected individuals develop a rapid, high fever after the administration of general anesthesia or certain muscle relaxants. Drugs that could cause this response include halothane, cyclopropane, or succinylcholine. People with Freeman-Sheldon Syndrome are especially prone to malignant hyperthermia. (For more information on this disorder, choose "malignant hyperthermia" as your search term in the Rare Disease Database.)
In most cases, Freeman-Sheldon syndrome occurs randomly, with no apparent cause (sporadically). Other cases are inherited as an autosomal dominant trait. In rare cases, autosomal recessive or X-linked recessive inheritance has been suggested.
Genetic diseases are determined by the combination of genes for a particular trait that are on the chromosomes received from the father and the mother. Dominant genetic disorders occur when only a single copy of an abnormal gene is necessary for the appearance of the disease. The abnormal gene can be inherited from either parent, or can be the result of a new mutation (gene change) in the affected individual. The risk of passing the abnormal gene from affected parent to offspring is 50% for each pregnancy regardless of the sex of the resulting child.
Investigators have determined that Freeman-Sheldon syndrome can be caused by disruptions or changes (mutations) to the embryonic myosin heavy chain (MYH3) gene located on the short arm of chromosome 17 (17p13.1). Chromosomes, which are present in the nucleus of human cells, carry the genetic information for each individual. Pairs of human chromosomes are numbered from 1 through 22, and an additional 23rd pair of sex chromosomes which include one X and one Y chromosome in males and two X chromosomes in females. Each chromosome has a short arm designated "p" and a long arm designated "q". Chromosomes are further sub-divided into many bands that are numbered. For example, "chromosome 17p13.1" refers to band 13.1 on the short arm of chromosome 17. The numbered bands specify the location of the thousands of genes that are present on each chromosome.
In some rare cases, a clinically indistinguishable form of Freeman-Sheldon syndrome is inherited as an autosomal recessive trait. In a few of these cases, parents of several individuals with the disorder have been closely related by blood (consanguineous). If both parents carry the same disease gene, then there is a higher than normal risk that their children may inherit the two disease genes for this disorder.
Recessive genetic disorders occur when an individual inherits the same abnormal gene for the same trait from each parent. If an individual receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms. The risk for two carrier parents to both pass the defective gene and, therefore, have an affected child is 25% with each pregnancy. The risk to have a child who is a carrier like the parents is 50% with each pregnancy. The chance for a child to receive normal genes from both parents and be genetically normal for that particular trait is 25%. The risk is the same for males and females.
Some findings associated with Freeman-Sheldon syndrome suggest the disorder may be a form of muscle disease known as myopathic arthrogryposis, a condition in which an underlying disease of the muscles (myopathy) results in permanent fixation of the joints of the fingers and toes (distal arthrogryposis).
Freeman-Sheldon syndrome is a rare disorder that affects males and females in equal numbers. Approximately 100 cases have been reported in the medical literature since the disorder was first described in 1938 by Drs. Freeman and Sheldon. Some cases occurred within families (kindreds) over several generations. Some symptoms and physical findings associated with the disorder are apparent at birth (congenital). Freeman-Sheldon syndrome is one of a group of disorders that are associated with multiple congenital contractures (MCCs). MCCs occur in approximately 1 in 3,000 children. Because the disorder shares features with other congenital contracture syndromes it sometimes is misdiagnosed making it difficult to determine its true frequency in the general population.
Symptoms of the following disorders can be similar to those of Freeman-Sheldon syndrome. Comparisons may be useful for a differential diagnosis:
Schwartz-Jampel syndrome is an extremely rare inherited disorder characterized by abnormalities of the skeletal muscles, including muscle weakness and stiffness (myotonic myopathy); skeletal malformations, such as a sideways and front-to-back curvature of the spine (kyphoscoliosis); permanently flexed, fixed joints (contractures), and/or improper development of the hip (hip dysplasia); and/or growth delays resulting in abnormally short stature (dwarfism). Affected individuals also have small, fixed facial features and exhibit various abnormalities of the eyes, some of which may cause impaired vision. The range and severity of symptoms may vary from case to case. Schwartz-Jampel syndrome is thought to be inherited as an autosomal recessive trait. (For more information on this disorder, choose "Schwartz Jampel" as your search term in the Rare Disease Database.)
Distal arthrogryposis type 1 is a rare inherited disorder characterized by fingers that are permanently flexed (camptodactyly) in an outward position and away from the thumb (ulnar deviation). In addition, affected infants have clenched fists, overlapping fingers, and/or positional foot malformations such as clubfoot. In most cases, affected individuals have normal intelligence. The physical features and symptoms associated with the disorder are less severe than those associated with distal arthrogryposis types 2A and 2B. Distal arthrogryposis type 1 is inherited as an autosomal dominant trait.
Distal arthrogryposis type 2B, also known as Sheldon-Hall syndrome, was once considered a variant of Freeman-Sheldon syndrome, but is now considered a separate rare inherited contracture disorder. Sheldon-Hall syndrome is characterized by physical findings and symptoms that are similar, but less severe, than those associated with Freeman-Sheldon syndrome. Affected infants have distinctive facial features including a triangularly-shaped face, an abnormally small mouth, a prominent chin, and/or downslanting eyelid folds (palpebral fissures). Affected infants also have fingers that are permanently flexed (camptodactyly) in an outward position away from the thumb (ulnar deviation) and/or clubfoot. In addition, affected infants may have a highly-arched roof of the mouth (palate) and/or short stature. Infants with Sheldon-Hall syndrome usually do not experience severe feeding difficulties at birth and do not have pinched lips, a raised scar-like mark in the shape of an "H" on the chin, strabismus, or severe scoliosis. Distal arthrogryposis type 2B is inherited as an autosomal dominant trait.
Arthrogryposis multiplex congenita (AMC) is a broad group of disorders characterized by a wide spectrum of symptoms and physical features that may vary greatly in range and severity from case to case. However, in most cases, affected infants have various joints that are fixed in a permanently flexed or extended position (contractures). The joints of the legs and arms are usually affected; the legs are affected more often than the arms. The joints of the shoulders, elbows, knees, wrists, ankles, fingers, toes, and/or hips are most often affected. The major form of arthrogryposis multiplex congenita is known as amyoplasia. In most cases, arthrogryposis multiplex congenita occurs randomly, for no apparent reason (sporadic). (For more information on this disorder, choose "arthrogryposis multiplex congenita" as your search term in the Rare Disease Database.)
Trismus-pseudocamptodactyly syndrome is a very rare inherited disorder characterized by the inability to completely open the mouth (trismus), and/or the presence of abnormally short muscle-tendon units in the fingers. The defect of the muscle tendons causes the fingers to curve or bend (camptodactyly) when the hand is bent back at the wrist (dorsiflexion). Because the fingers are not permanently bent or curved as in true camptodactyly, this particular finding is termed "pseudocamptodactyly." In addition, the muscle-tendon units of the forearms and/or the legs may be abnormally short, resulting in limited movements and various deformities of the feet. Individuals with this disorder may have a slightly shorter than usual stature. Complications associated with this disorder include difficulty in chewing (mastication) and walking. The severity of symptoms may vary from case to case. Trismus-pseudocamptodactyly syndrome is inherited as an autosomal dominant trait. (For more information on this disorder, choose "Trismus pseudocamptodactyly" as your search term in the Rare Disease Database.)
Gordon syndrome is an extremely rare disorder that belongs to a group of genetic disorders known as the distal arthrogryposes. These disorders typically involve stiffness and impaired mobility of certain joints of the lower arms and legs (distal extremities) including the knees, elbows, wrists, and/or ankles. These joints tend to be permanently fixed in a bent or flexed position (contractures). Gordon syndrome is characterized by the permanent fixation of several fingers in a flexed position (camptodactyly), abnormal bending inward of the foot (clubfoot or talipes), and, less frequently, incomplete closure of the roof of the mouth (cleft palate). In some cases, additional abnormalities may also be present. The range and severity of symptoms may vary from case to case. Gordon syndrome is inherited as an autosomal dominant trait. (For more information on this disorder, choose "Gordon syndrome" as your search term in the Rare Disease Database.)
Simosa craniofacial syndrome is an extremely rare inherited disorder characterized by malformations of the head and face. The face may be elongated and flattened with malformed ears. The eyebrows may be abnormally thin and highly arched. Abnormalities affecting the eyes include folds of skin over the inner corners of the eyes (epicanthal folds), and decreased height of the openings between the eyelids (palpebral fissures). The nose may be unusually long with underdeveloped (hypoplastic) nostrils (nares). The vertical groove between the nose and the upper lip (philtrum) may be abnormally long. Affected individuals also have an unusually small mouth (microstomia), a highly arched roof of the mouth (palate), and/or a dimpled chin. Individuals with this disorder may also have a nasal quality to their voice. Simosa craniofacial syndrome is inherited as an autosomal dominant trait.
Burton syndrome is an extremely rare disorder characterized by malformations of the bones (skeletal dysplasia) in association with certain distinctive facial features. Individuals with this disorder have short stature due to shortening of the shafts (diaphyses) of the long bones (short limbed dwarfism). The long bones of the legs and arms may be dumbbell-shaped, and the portions of the long bones that naturally widen at the ends (metaphyses) may be unusually flared. Some affected individuals have club foot (talipes equinovarus). The bones of the spine (vertebrae) may be flattened (platyspondyly) with abnormal widening of the grooves (clefts) in these bones. The ribs may be unusually wide and short and the hip bones (ilia) may be underdeveloped (hypoplastic). Individuals with this disorder have characteristic facial features consisting of an abnormally small mouth (microstomia), and pursed lips. In addition, the lenses of the eyes may be displaced (ectopia lentis). In some cases, the neck may be unusually short and the upper chest (thorax) may be narrow. Burton syndrome is thought to be inherited as an autosomal recessive trait.
The diagnosis of Freeman-Sheldon syndrome may be confirmed based upon a thorough clinical evaluation, the identification of characteristic physical findings, a detailed patient history, and specialized testing such as advanced imaging techniques. In some cases, the disorder may be diagnosed before birth (prenatally) using fetal ultrasonography to identify characteristic physical abnormalities. In fetal ultrasonography, an image of the developing fetus is created using sound waves.
Most of the physical abnormalities associated with this disorder may be obvious at birth. However, physical findings and symptoms are highly variable and characteristic facial features and malformations of the hands and feet may not be present in all cases. Computed tomography (CT) scanning may be used to determine the presence and/or severity of specific craniofacial and dental symptoms. During CT scanning, a computer and x-rays are used to create a film showing cross-sectional images of certain tissue structures. X-ray studies may also reveal an abnormally steep depression in the (occipital) bone of the lower rear portion of the skull (anterior cerebral fossa).
In addition, electromyography may reveal the underdevelopment (hypoplasia) of certain muscles in the hands, feet and upper jaw. In electromyography, special equipment is used to measure the response of certain muscles to stimulation by electrical currents. In some cases, surgical removal and microscopic examination of small samples of muscle tissue (biopsy) may reveal abnormal accumulation of fibrous connective tissue.
The treatment of Freeman-Sheldon syndrome is directed toward specific symptoms that are apparent in each individual. Treatment may require the coordinated efforts of a team of specialists including pediatricians, orthopedic surgeons, dental specialists, speech pathologists, physicians who specialize in the diagnosis and treatment of disorders of the muscles, and other health care professionals. These medical specialists systematically and comprehensively plan an affected child's treatment.
Specific therapies for the treatment of Freeman-Sheldon syndrome are symptomatic and supportive. An unusually small mouth (microstomia) may be treated by surgery or by using a special device that expands the mouth for a few hours each day. This treatment is essential since the mouth may be too small to permit orthodontic treatment that may be necessary to correct dental abnormalities such as malocclusion.
Swallowing difficulty (dysphagia) may be treated with a device that maintains tension on the neck (halo traction) and special procedures that can correct the stiffness of the neck muscles (posterior occipital-cervical decompression and fusion). Speech therapy may prove beneficial in improving tongue movement for speech and swallowing.
Surgery may be performed to correct additional physical abnormalities, such as club feet, abnormalities of the hands, craniofacial abnormalities, and contractures of the knees and elbows. Physical therapy in combination with surgical and supportive measures may improve an affected individual's ability to walk and perform other movements independently. Ulnar deviation usually improves with age and does not require corrective surgery.
Some individuals with Freeman-Sheldon syndrome may be at risk for a malignant hyperthermia-like response when exposed to certain anesthesia or muscle relaxants (e.g., halothane). This risk must be taken into consideration by surgeons, anesthesiologists, dentists, and other health care workers when making decisions concerning potential surgery and use of particular anesthetics. It must also be considered by primary care physicians when prescribing certain medications.
Early intervention is important to ensure that children with Freeman-Sheldon syndrome reach their potential. Special services that may be beneficial to affected children include special educational and occupational therapy as well as other medical, social, and/or vocational services. Genetic counseling will be of benefit for affected individuals and their families. Other treatment is symptomatic and supportive.
Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. All studies receiving U.S. government funding, and some supported by private industry, are posted on this government web site.
For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:
Tollfree: (800) 411-1222
TTY: (866) 411-1010
For information about clinical trials sponsored by private sources, contact:
The University of Virginia's Department of Plastic Surgery is reviewing surgical procedures for FSS. For more information, contact :
Dept. of Plastic and Maxillofacial Surgery
University of Virginia Medical Center
Charlotteville, VA 22908
Phone: (804) 924-5801
Investigators from the Intermountain Unit of Shriners Hospitals for Children, the University of Utah Department of Pediatrics, and the Eccles Institute of Human Genetics are collaborating on a project to map and characterize genes causing multiple congenital contracture disorders and limb deficiency/duplication syndromes. The disorders being studied are: autosomal dominant clubfoot, distal arthrogryposis type I, Gordon syndrome, Freeman-Sheldon syndrome, trismus-pseudocamptodactyly, autosomal dominant multiple pterygium syndrome, autosomal ulnar hypoplasia ectrodactyly disorders, ulnar mammary syndrome, Holt-Oram syndrome, and fibular hypoplasia. For more information, please contact:
Michael Bamshad, M.D.
Eccles Institute of Human Genetics
Building 533, Room 2100
University of Utah Medical Center
Salt Lake City, UT 84112
Tel: (801) 585-3384 (office)
Tel: (801) 585-3385 (lab)
Fax: (801) 581-7796
(Please note that some of these organizations may provide information concerning certain conditions potentially associated with this disorder [e.g., craniofacial deformities, muscle defects, etc.].)
(To become a member of NORD, an organization must meet established criteria and be approved by the NORD Board of Directors. If you're interested in becoming a member, please contact Susan Olivo, Membership Manager, at firstname.lastname@example.org.)
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FROM THE INTERNET
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Report last updated: 2007/09/23 00:00:00 GMT+0