About hutterite syndrome bowen-conradi type
What is hutterite syndrome bowen-conradi type?
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.
What are the symptoms for hutterite syndrome bowen-conradi type?
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.
What are the causes for hutterite syndrome bowen-conradi type?
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.
What are the treatments for hutterite syndrome bowen-conradi type?
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.
What are the risk factors for hutterite syndrome bowen-conradi type?
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.
Is there a cure/medications for hutterite syndrome bowen-conradi type?
Hutterite syndrome bowen-conradi type is a condition that affects numerous body systems and usually results in infant death. Affected people have low birth weights, struggle with eating, and grow very slowly. Their head is longer than expected relative to its width despite having an extremely small head overall (microcephaly) (dolichocephaly).
A broad, high-bridged nose and an exceptionally small jaw (micrognathia) and chin are distinguishing features of the face. Affected people frequently have feet with outwardly rounded soles (rocker-bottom feet), restricted joint movement, and pinky fingers that are bent toward or away from the ring finger (fifth finger clinodactyly) or permanently flexed (camptodactyly).
Cure or medication for hutterite syndrome bowen-conradi type
1. The particular symptoms that each person exhibits when they have hutterite syndrome bowen-conradi type are targeted for treatment. Such treatment may necessitate the coordinated efforts of a group of medical specialists, including pediatricians, surgeons, doctors who diagnose and treat neurological conditions (neurologists), doctors who specialize in conditions of the bones, joints, muscles, and related tissues (orthopedists), doctors who diagnose and treat heart conditions (cardiologists), and/or other health care professionals.
2. To assist correct various deformities that may be connected to the illness in some circumstances, surgical procedures may be advised. The extent of the anatomical abnormalities, the symptoms they are connected with, and other criteria will determine the specific surgical treatments that are carried out.
3. Families of babies and children with genetic disorders will benefit from genetic counseling. The other forms of care for hutterite syndrome bowen-conradi type include supportive and symptomatic.
Distinctive malformations of the head and facial (craniofacial) area as well as additional skeletal, genital, kidney (renal), and/or brain abnormalities,Abnormal growth delays before birth (intrauterine growth retardation), resulting in a low birth weight
A highly lethal autosomal recessive syndrome of microcephaly,Micrognathia,Low birth weight,Joint deformities