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Association of Hirschsprung’s Disease and Anorectal Malformation

A medical condition in which the large intestines are affected and they cause a problem in the passage of stool is known as Hirschsprung disease.

Another medication condition which might also give rise to problems in bowel movement is anorectal malformations. The concern here is whether there is any association between Hirschsprung’s disease and anorectal malformation or is these two different individual conditions. To understand it in details, let us first understand what is Hirschsprung’s disease and anorectal malformation and their respective symptoms.

What is Hirschsprung’s Disease?

What is Hirschsprung’s Disease?

Hirschsprung’s disease is a medical condition that affects bowel movement. It is known that the newborn suffering from Hirschsprung’s disease faces problem having a bowel movement in the first 48 hours after birth. This disease occurs at the time of birth and as a consequence of a missing nerve cell in the muscle of the colon of the baby.

When the case is mild, it is seen that the disease might not be discovered until later during childhood. It is reported that one newborn in 5000 is affected by Hirschsprung’s disease. Females are less affected by the disease as compared to males. Hirschsprung’s disease was first described by Frederick Ruysch in the year 1691. The disease is anomalous.

Signs and Symptoms of Hirschsprung’s disease

Signs and symptoms of the disease depend upon how severe is the condition. Some signs and symptoms are not visible till later part of life; however, almost immediately after the birth, symptoms are seen in most cases. The most obvious and major symptom that is seen is the failure of passing stool within 2 days after the child is born.

Some other signs and symptoms observed in the newborn are diarrhea, swollen belly, constipation or gas that would make the newborn a bit fussy and make them to vomit which includes a brown or green substance. Older kids show few other signs and symptoms like fatigue, Gas, swollen belly, chronic constipation, and failure to thrive. Some cases may be diagnosed in the later part of life but usually before the age of the child is 10 years. The child may encounter symptoms like abdominal distention and faecal retention.

What is Anorectal Malformation?

Birth defects or problems that take place in the anus and rectum when the unborn baby is developing during pregnancy are known as anorectal malformations. These defects cause problems to the anus and the rectum doesn’t evolve properly. An anorectal malformation can cause many severe problems like anal passage may be narrow, rectum may not be connected to the anus, the opening of the anal may either be covered by tissue or with a membrane and in some cases, the rectum might be connected to the urinary tract. The unborn baby may have the start off of urinary tract and the lowermost part of the large intestine as one giant pile of cells while in the womb. An anorectal malformation causes a problem for the movement of bowel in an infant. Its treatment depends upon what kind of problem the child is facing.

Anorectal malformation may be associated with some congenital or genetic problems which are existss at the time of the birth. Some of them are Townes-Brocks Syndrome, Down syndrome, digestive system troubles, problems with urinary tract and spinal complications.

Symptoms of Anorectal Malformation

An anorectal malformation causes complications in the movement of bowels in a child. Most of the cases originate before the newborn is discharged from the hospital. If the problem arises after the child leaves the hospital then the symptoms are constipation or trouble in the bowel movements, lack of stool, stool coming out from the vagina, urine flowing from the anus or stool in the urine.

Association of Hirschsprung’s Disease and Anorectal Malformation

The association between anorectal malformations and Hirschsprung’s disease is extremely rare. The exact occurrence of this association is not known but chances of Hirschsprung’s disease and anorectal malformation is reported to be 2.3% to 3.4%. Total of 90 cases was reported between the years 1952 to 2013 regarding Hirschsprung’s disease coexisting with anorectal malformation[1]. The identification of Hirschsprung’s disease is quite delayed due to the revelation of anorectal malformation initially. There is a high degree of chances to get affected from other associated diseases when both anorectal malformations and Hirschsprung’s disease coexist. The association between both the diseases that are anorectal malformations and Hirschsprung’s disease was assumed to be first reported by Kiesewetter during the year 1964.

After the discovery, very few countable cases have been reported from around the globe. When both the diseases coexist, it would become a challenge for diagnosis and to manage the patients with the obstruction in the intestines. If both the diseases coexist then the mortality and morbidity can be quite high.

The etiology of both diseases is not known and is mysterious. As such, no single factor or rather group of factors are responsible for the occurrence of both the Hirschsprung’s disease and anorectal malformation simultaneously. The occurrence of both the diseases together may increase the chances of mortality in the children. While diagnosing, if only one of this disease is found out by the medical professionals, it might be difficult to manage medicines and treatments of the patients later. Since the chances of both the diseases to occur simultaneously are quite rare it might obscure the management. Hence to sum up everything, the happening of both Hirschsprung’s disease and anorectal malformation together is rare but it does happen. Quick diagnosis and strong suspicion can be of prime importance in the management of both the diseases.


Both Hirschsprung’s disease and anorectal malformation are related to the obstruction in the bowel movements in a newborn. The chances of both the diseases to occur at the same time in the newborn are quite low but they do occur. Proper and quick diagnosis of these diseases can help the child to get rid of the diseases by various surgeries. More awareness regarding both the diseases should be spread among the people although it is rare for both of them to occur together.


  1. Hofmann, A., & Puri, P. Association of Hirschsprung’s disease and anorectal malformation: a systematic review. Pediatric Surgery International, (2013). 913-917. doi: 10.1007/s00383-013-3352-2

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Sheetal DeCaria, M.D.
Sheetal DeCaria, M.D.
Written, Edited or Reviewed By: Sheetal DeCaria, M.D. This article does not provide medical advice. See disclaimer
Last Modified On:August 1, 2019

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