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Weismann-Netter-Stuhl syndrome is an extremely rare inherited skeletal disorder characterized by the abnormal development of bone (osseous dysplasia). Affected individuals exhibit bowing of the long portions (shafts) of the shinbone (tibia) and the outer, smaller bone of the leg below the knee (fibula). In some individuals, other bones may also be affected, such as the ribs, pelvis, spinal column, and/or bones in the arms. The primary characteristic of Weismann-Netter-Stuhl syndrome is short stature (dwarfism). In most cases, this disorder is thought to be inherited as an autosomal dominant trait.
The major physical characteristics of Weismann-Netter-Stuhl syndrome include short stature (dwarfism) and bowing of the front (anterior) of the long portions (shafts) of the shinbone (tibia) and the smaller bone of the leg below the knee (fibula). Individuals affected by Weismann-Netter-Stuhl syndrome rarely have any major functional limitations. In many cases, the diagnosis of Weismann-Netter-Stuhl syndrome may not be made until adolescence or adulthood because of the lack of serious complications associated with this disorder.
Along with the characteristic bowing of the tibia and fibula, affected individuals may also exhibit bowing of the sides (lateral bowing) of the thigh bones (femur) and/or outward curvature of the tibia (saber shins). Additional bones may also be affected including the ribs and pelvis.
Individuals with Weismann-Netter-Stuhl syndrome may also exhibit bowing of certain bones in the forearms (i.e., ulna and radius), malformation of a part of the hip bone (ilium), improper development of bone toward the bottom of the spinal column (horizontal sacrum), widening of the marrow cavities inside bones, and/or thickening of the outer layers (cortexes) of the long bones (diaphyseal dysplasia). In addition, some affected individuals may exhibit a sideways curvature of the spine (scoliosis) and/or a front-to-back curvature of the spine (kyphosis).
About 20 percent of children with Weismann-Netter-Stuhl syndrome have mild mental retardation. Most affected individuals begin to walk later than is normally expected, however, the reason for this delay is not understood.
In most cases, Weismann-Netter-Stuhl syndrome is thought to be inherited as an autosomal dominant trait. Genetic diseases are determined by two genes, one received from the father and one from 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.
Weismann-Netter-Stuhl syndrome is an extremely rare skeletal disorder that affects males and females in equal numbers. Approximately, 70 cases have been reported in the medical literature since the disorder's original description in 1954. However, because rare disorders like Weismann-Netter-Stuhl syndrome often go unrecognized, these disorders are under-diagnosed, making it difficult to determine the true frequency Weismann-Netter-Stuhl syndrome in the general population.
Symptoms of the following disorders can be similar to those of Weismann-Netter-Stuhl syndrome. Comparisons may be useful for a differential diagnosis:
Camptomelic syndrome is a rare congenital skeletal disorder characterized by short stature along with bowing and an unusual angular shape of the long bones of the legs. The bones of the shoulders and pelvic area are often abnormal. Affected individuals may have 11 pairs of ribs instead of the usual 12. There are two forms of this disorder, the long-limbed form and the short-limbed form. Camptomelic syndrome is inherited as an autosomal recessive trait. (For more information on this disorder, choose "Camptomelic" as your search term in the Rare Disease Database.)
Vitamin D deficiency rickets is a rare disorder that appears during infancy and childhood. It is caused by insufficient amounts of vitamin D in the body. Without vitamin D, an affected individual's bones do not form properly. Symptoms of this disorder include restlessness; slow growth; a delay in crawling, sitting, and/or walking; abnormal development of teeth; and/or bowed long bones of the legs. (For more information on this disorder, choose "Vitamin D Deficiency Rickets" as your search term in the Rare Disease Database.)
Hypophosphatemic rickets is a rare genetic form of rickets characterized by impaired transport of phosphate and diminished vitamin D metabolism in the kidneys. Symptoms of this disorder may include weakness, pain in the knees, bowed legs, diminished growth, and/or softening or thinning of bones. Hypophosphatemic rickets is inherited as a dominant X-linked trait. (For more information on this disorder choose "Hypophosphatemic Rickets" as your search term in the Rare Disease Database.)
Ollier disease is a rare skeletal disorder characterized by abnormal bone development (skeletal dysplasia). This disorder is present at birth (congenital), however, it may not be apparent until early childhood when certain symptoms, such as deformities or improper limb growth, are observed. Ollier disease primarily affects the long bones and cartilage in the joints of the arms and legs. Limb shortening, bowing of the long bones, and/or short stature may occur in some affected individuals. (For more information on this disorder, choose "Ollier" as your search term in the Rare Disease Database.)
Congenital syphilis is a rare chronic infectious disorder characterized by low birth weight, fever, rash, and/or outward curvature of the tibia (saber shins). Other symptoms may include hardening of the umbilical cord, high levels of cholesterol at birth, anemia, an enlarged liver and/or spleen, and/or mental retardation. Syphilis is caused by a spiral-shaped bacteria (spirochete) Treponema pallidum; in cases of congenital syphilis the disease is acquired by the fetus from the mother sometime during fetal development. In most cases, symptoms of this disorder are apparent at birth or within the first few months of life; however, in some cases, several years may pass before symptoms are recognized. (For more information on this disorder, choose "Congenital Syphilis" as your search term in the Rare Disease Database.)
The diagnosis of Weismann-Netter-Stuhl syndrome may be confirmed by x-ray studies of the skeleton that reveal distinctive bowing of the long bones of the legs, lateral bowing of the femur, thickened outer layers of bones, and widened marrow cavities. Other x-ray findings may include bowing of certain arm bones (i.e., ulna and radius), malformation of part of the hip bone (ilium), abnormal development of part of the spinal column (horizontal sacrum), and/or hardening of a membrane that surrounds the brain and spinal cord (dural calcification).
The treatment of Weismann-Netter-Stuhl syndrome is directed toward the specific symptoms that are apparent in each individual. Genetic counseling will be of benefit for affected individuals and their families. A supportive team approach for children with Weismann-Netter-Stuhl syndrome may be helpful. Such a team approach may include physical therapy and other medical, social, or vocational services. Other treatment is symptomatic and supportive.
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FROM THE INTERNET
McKusick VA, ed. Online Mendelian Inheritance in Man (OMIM). Baltimore. MD: The Johns Hopkins University; Entry No:112350; Last Update:8/15/94.
Report last updated: 2008/04/18 00:00:00 GMT+0