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Bowen Hutterite Syndrome: Causes, Symptoms, Treatment, Epidemiology, Diagnosis

What is Bowen Hutterite Syndrome

The Bowen Hutterite Syndrome is one of the rare genetic conditions that become rather prominent right at the time of birth. One of the characteristic features of Bowen Hutterite Syndrome is the inappropriate growth of the child even before birth. This is also known as intrauterine growth retardation. Another common feature of Bowen Hutterite Syndrome is that the infant is unable to grow and also gain the required amount of weight at the normal rate. Most of the children suffering from Bowen Hutterite Syndrome has facial and head malformations and also has other abnormal physical formations. Bowen Hutterite syndrome is an autosomal recessive disorder, that is inheriting the mutated gene from any one parent can get the child present with the syndrome (1).

Symptoms of Bowen Hutterite Syndrome

  • Distorted Growth and Appearance: Bowen Hutterite Syndrome is a condition where the growth of the child is thwarted and the appearance is clearly affected. One of the distinct problems of Bowen Hutterite Syndrome is that the child suffering from it might have abnormal formations of the kidneys, the brain, the genitals and other parts of the body. Infants born with Bowen Hutterite Syndrome often have a particular facial appearance which is affected due to their craniofacial malformations (1). They can have a very small head which can have a narrow and long appearance, an underdeveloped small jaw, a strong nose and also a very small chin.
  • Problems of Growth Even Before Birth: Many infants with Bowen Hutterite Syndrome have to face the problem of inadequate growth during their intrauterine phase (even before they are born). This is why when they are born they are not of the required weight. In addition to this, some babies can be in the breech position wherein as opposed to the head, the feet get into the canal passage at the time of birth (2).
  • Feeding Issues in Infants Suffering from Bowen Hutterite Syndrome: These children also have a problem with suckling and eating. This is one of the main reasons why they are unable to grow and gain weight.
  • Malformation of the Limbs as a Symptom of Bowen Hutterite Syndrome: One of the typical symptoms of the condition is that the child has malformations in their limbs especially in the feet and hands. Infants can have permanent flexions or abnormal deviations on their fifth fingers; they can also have improperly developed nails and also a deformity of their feet. The ankle bones can also be deformed (1). The child might also have to face malformations of the joints and also the spinal cord.
  • Genital Malformations: Male infants with Bowen Hutterite Syndrome can have improperly developed genitals. The testes do not descend into the scrotum. The urinary openings may also be abnormal.
  • Other Symptoms: There can be other conditions like a hernia in the region of the intestines, both the kidneys being joined in the shape of a horseshoe and structural malformations in the heart. These infants are also vulnerable to respiratory trouble like pneumonia.

Causes of Bowen Hutterite Syndrome

The Bowen Hutterite Syndrome is one of the rarest genetic disorders. The realm of genes happens to be a highly complex and interesting one. The behavior pattern of these genes is still a matter of active research. Although till now a lot of research has been done on the domain, there still remains a lot that needs to be found out on the topic (1).

It has been seen that a child must inherit a diseased gene from each of its parents in order to be affected by Bowen Hutterite Syndrome. In case the child receives a mutated gene from one parent and a healthy gene from the other parent then the chances of inheriting the problem is much less; however, the child will be a carrier. In this context, it can be said that this is a risk that is as much prevalent for the male infant as it is for the female infant. In many cases, it has been seen that if both the parents are carriers of Bowen Hutterite Syndrome, although it could have been dormant in them, the syndrome could become an active one in their child.

Epidemiology of Bowen Hutterite Syndrome

The Bowen Hutterite syndrome can be seen in both male and female infants. The condition was first described and explained by P. Bowen in 1976. A maximum number of children who are present with the syndrome and have been reported are from the Hutterite fraternity that happens to be a religious group from Moravia. They are found in certain parts of Canada, the United States, and Alberta.

Diagnosis of Bowen Hutterite Syndrome

The diagnosis of Bowen Hutterite Syndrome can be done at the birth time of the child itself. In many cases, if the child is in breach condition, a cesarean section is recommended by the doctors. The condition of the child becomes apparent from the appearance of the child. However, in certain cases, family history is also checked to confirm the condition. These days the imaging technology is also used so that the malformations of the skeletal system, the brain, heart, and the kidneys can be done for confirmation (1, 2).

Treatment of Bowen Hutterite Syndrome

In order to provide treatment for Bowen Hutterite Syndrome, proper management of the symptoms is essential. This is something that can be done with proper coordination of a team of doctors that will include pediatricians, physicians, surgeons and specialists like nephrologists or cardiologists (1). Depending on the nature of malformation, the nature of the team and the selection of the specialists need to be made. Surgery should be considered depending on the extent of malformations.


Bowen Hutterite Syndrome is one of the rarest genetic disorders. It affects a small portion of the infants that are born across the world on a daily basis. Hence, there is no reason to think that every child who is delivered through cesarean section or is in a breech position will be at a threat from the syndrome. The exact cause of the problem is still not known. Hence, further advance researches are being done into the domain so that the doctors, patients and their families and caregivers can be better prepared for the condition.


Pramod Kerkar, M.D., FFARCSI, DA
Pramod Kerkar, M.D., FFARCSI, DA
Written, Edited or Reviewed By: Pramod Kerkar, M.D., FFARCSI, DA Pain Assist Inc. This article does not provide medical advice. See disclaimer
Last Modified On:December 3, 2019

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