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Bowen Hutterite syndrome is a rare genetic disorder that is apparent at birth (congenital). The disorder is characterized by growth delays before birth (intrauterine growth retardation); failure to grow and gain weight at the expected rate (failure to thrive) during infancy; malformations of the head and facial (craniofacial) area, resulting in a distinctive appearance; and other physical abnormalities. These may include restricted joint movements, abnormal deviation (clinodactyly) or permanent flexion (camptodactyly) of the fifth fingers, foot deformities, and/or undescended testes (cryptorchidism) in affected males. Some affected infants may also have kidney (renal), brain, and/or other malformations. Bowen Hutterite syndrome is inherited as an autosomal recessive trait.
Bowen Hutterite syndrome is primarily characterized by distinctive malformations of the head and facial (craniofacial) area as well as additional skeletal, genital, kidney (renal), and/or brain abnormalities.
In most instances, there are abnormal growth delays before birth (intrauterine growth retardation), resulting in a low birth weight. In addition, in some cases, the fetus may be in a breech presentation, meaning that the buttocks or feet (rather than the head) may present first in the birth canal during delivery. A breech presentation may cause difficulties during labor and an increased risk of complications.
In infants with Bowen Hutterite syndrome, characteristic findings include poor suckling ability, associated feeding difficulties, and failure to grow and gain weight at the expected rate (failure to thrive). In addition, most affected infants have a characteristic appearance strongly resembling that of infants with Trisomy 18 syndrome, a chromosomal disorder. (For further information on this disorder, please see the "Related Disorders" section of this report below.) For example, infants with Bowen Hutterite syndrome tend to have a distinctive facial appearance due to certain craniofacial malformations. These may include an abnormally small head (microcephaly) that appears unusually long and narrow (dolichocephaly); a prominent nose; a small, underdeveloped jaw (micrognathia); and a small chin.
Bowen Hutterite syndrome is also typically associated with malformations of the hands and feet. Affected infants may have abnormal deviation (clinodactyly) or permanent flexion (camptodactyly) of the fifth fingers; underdeveloped (hypoplastic) nails; and/or a deformity in which the feet appear shaped like the rocker of a rocking chair ("rocker-bottom feet") with malformation of the ankle bones (vertical tali). Additional musculoskeletal defects may also be present, such as limited movements of certain joints or malformations of bones in the spinal column (vertebrae).
Bowen Hutterite syndrome may also be characterized by genital malformations. In affected males, the testes fail to descend into the scrotum (cryptorchidism). In addition, there may be abnormal placement of the urinary opening (hypospadias), such as on the underside of the penis. Additional malformations may also be associated with the disorder, such as protrusion of portions of the intestine through an abnormal opening in muscles of the groin (inguinal hernia), joining of the two kidneys at the base, creating a "horseshoe"-like shape (horseshoe kidneys), or other renal defects, and/or structural abnormalities of the heart (congenital heart defects). Infants with Bowen Hutterite syndrome may also be susceptible to respiratory infections, such as pneumonia.
A few cases have been reported of infants with the disorder who also have brain malformations, such as absence of part of the narrow protrusion or lobe between the two hemispheres of the region of the brain known as the cerebellum.
According to reports in the medical literature, individuals with Bowen-Hutterite syndrome may develop life-threatening complications within the first months or years of life.
Bowen Hutterite syndrome is transmitted as an autosomal recessive trait. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother.
In recessive disorders, the condition does not appear unless a person inherits the same defective 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 of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is 25 percent. Fifty percent of their children risk being carriers of the disease but generally will not show symptoms of the disorder. Twenty-five percent of their children may receive both normal genes, one from each parent, and will be genetically normal. The risk is the same for each pregnancy.
The parents of most individuals with Bowen Hutterite syndrome have been closely related by blood (consanguineous). In recessive disorders, if both parents carry the same gene for the same disease trait, there is an increased risk that their children may inherit the two genes necessary for development of the disease.
Bowen Hutterite syndrome appears to affect males and females in equal numbers. Since the disorder was originally described in two brothers in 1976 (P. Bowen), over 20 cases have been reported in the medical literature. Most affected individuals are Hutterites. The Hutterites are members of a religious sect (Anabaptists) originally from Moravia who live communally in certain regions of the United States (e.g., Montana, North and South Dakota) and Alberta, Canada.
As mentioned above, in some cases of Bowen Hutterite syndrome, the fetus may be in a breech presentation. In such cases, before delivery, obstetricians may sometimes attempt to turn the fetus to present head first and/or may recommend delivery by cesarean section. A cesarean section is a surgical procedure in which a baby is delivered from the uterus through an incision in the abdomen.
The diagnosis of Bowen Hutterite syndrome is typically made at or shortly after birth based upon a thorough clinical evaluation, a careful family history, and characteristic physical findings. In some cases, advanced imaging techniques or other specialized testing may be conducted to detect or characterize certain abnormalities that may be associated with the disorder (e.g., skeletal, cardiac, and/or brain malformations).
The treatment of Bowen Hutterite syndrome is directed toward the specific symptoms that are apparent in each individual. Such treatment may require the coordinated efforts of a team of medical professionals, such as pediatricians; surgeons; physicians who diagnose and treat neurological disorders (neurologists); physicians who specialize in disorders of the bones, joints, muscles, and related tissues (orthopedists); physicians who diagnose and treat heart abnormalities (cardiologists); and/or other health care professionals.
For many affected infants, supportive measures may be required to help improve feeding and the intake of necessary nutrients. Such measures may include the delivery of liquid nutrients to the stomach through a tube inserted through the nose (nasogastric tube feeding). In addition, for those with hydrocephalus, a specialized device (shunt) may be surgically implanted to drain excess cerebrospinal fluid (CSF) away from the brain and into another part of the body where the CSF can be absorbed. In some cases, surgical measures may be recommended to help repair certain malformations potentially associated with the disorder. The specific surgical procedures performed will depend upon the severity of the anatomical abnormalities, their associated symptoms, and other factors.
Genetic counseling will be of benefit for families of affected infants and children. Other treatment for Bowen Hutterite syndrome is symptomatic and supportive.
Treatment of Bowen Hutterite Syndrome is symptomatic and supportive. Feeding through a surgical opening into the stomach (gastrostomy) may be needed in some cases.
Genetic counseling will be of benefit for patients and their families.
Research on birth defects and their causes is ongoing. The National Institutes of Health (NIH) is sponsoring the Human Genome Project, which is aimed at mapping every gene in the human body and learning why genes sometimes malfunction. It is hoped that this new knowledge will lead to prevention and treatment of genetic disorders in the future.
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:
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Home page: http://rarediseases.info.nih.gov/GARD/
Gorlin RJ, et al., eds. Syndromes of the Head and Neck. 3rd ed. New York, NY: Oxford University Press; 1990:43-46, 623-624.
Buyse ML. Birth Defects Encyclopedia. Dover, MA: Blackwell Scientific Publications, Inc.; 1990:304-305, 385-386, 883-884.
Aynaci FM, et al. Hypospadias as a new congenital anomaly in Bowen-Conradi syndrome. Genet Couns. 1994;5:369-371.
Henkel KE, et al. Genetic-morphologic fatal syndromes. Bowen-Conradi syndrome. Pathologe. 1993;14:220.
Beemer FA, et al. A newborn infant with the Bowen-Conradi syndrome; a fatal hereditary disorder. Tijdschr Kindergeneeskd. 1982;50:54-57.
Laziuk GI, et al. Bowen-Conrad syndrome. Arkh Patol. 1980;42:60-64.
Hunter AGW, et al. The Bowen-Conradi syndrome--a highly lethal autosomal recessive syndrome of microcephaly, micrognathia, low birth weight, and joint deformities. Am J Med Genet. 1979;3:269-279.
Bowen P, et al. Syndrome of skeletal and genitourinary anomalies with unusual facies and failure to thrive in Hutterite sibs. Birth Defects Orig Art Ser XII. 1976;12:101-108.
FROM THE INTERNET
Online Mendelian Inheritance in Man, OMIM (TM). John Hopkins University, Baltimore, MD. MIM Number 211180; 2/19/94. Available at: http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim? 211180.
Report last updated: 2007/08/08 00:00:00 GMT+0