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.