Imperforate Anus: Causes, Symptoms, Complications, And Treatment

Imperforate Anus is a medical abnormality that causes imperfect development or absence of anus. The location of the anus, in this case, is either connected to other parts like the vagina /penis, rectum, bladder, or fistula.

This is a congenital disorder that indicates its presence from birth. It can be detected and cured with the help of early detection, surgery, and medical therapy.

Summary: Imperforate Anus can be described as abnormal development or absence of anus in the human body. This is a congenital disorder that can only be detected after birth.

The key symptom of this medical condition is the absence of an anal hole at the time of birth. Apart from that here are some common things that one can look for immediately after a few hours of birth:

• The first stool didn’t pass within 24 to 48 hours.
• Stool passes from vagina/ base of penis/ scrotum/ urethra.
• Swollen abdominal area.

Summary: Symptom of Imperforate Anus includes the absence of anal hole, alongside abdominal discomfort and no or unusual release of stool via other neighboring organs.

The chief cause of the genetic mutation is still under research. Medical researchers are looking for the key genetic mutations that cause this set of symptoms. It is an autosomal recessive disorder. It states that if both the parents inherit the actions of deactivating the form of a faulty gene it can transfer into their offspring.

It gets activated in the body of your child during the fetal and infancy stages. It is a pattern of inheritance where the affected individual possesses two copies of the mutant gene. This disorder only develops when both of the partners have identical defaulty DNA.

This can also happen if one copy of the gene is dominant and one copy is recessive. The chances of getting affected by the genetic mutation can be different, for example, there is a 25% chance that a child may turn out to be normal with no mutation whatsoever or become get affected with two recessive genes, but in this case, there is a 50% chance that the offspring will become a carrier of the disease with no such medical condition.

Summary: The core reason why Imperforate Anus develops in an individual is yet to be identified. It is an autosomal recessive genetic disorder that cannot be detected or prevented during pregnancy.

Physical examination is conducted in order to diagnose Imperforate Anus. The doctor will see the presence of an anus hole in the child. If the hole is absent, your doctor will ask you to get the following test done by the lab technician:

• X-ray
• Spinal ultrasound
• Echocardiogram
• MRI

This test is recommended to examine the digestive tract, current stool passage other damages caused by the physical abnormality.

Summary: Diagnosis of Imperforate Anus begins with a physical examination of the child. It is followed by medical tests which aid in the decision for the correct treatment plan.

It is a deformity that develops during pregnancy. So it can’t be prevented. However, one can seek medical help and get the complete diagnosis done to avoid future complications.

Summary: It is quite difficult to prevent genetic conditions like Imperforate Anus. It can only be diagnosed and further complications can be prevented related to this disorder.

In most cases, Imperforate Anus is diagnosed at the time of birth or within 24 hrs of observation. However, if the newborn shows any symptoms identical to Imperforate Anus contact your medical professional as soon as possible.

Summary: If you see any symptoms in your or your child. Contact your medical supervisor immediately.

It is a genetic abnormality that cannot be resolved on its own. Without proper medical treatment, it can cause a critical life-threatening situation for the newborn.

Since it is a physical abnormality, one needs to undergo a surgical procedure in order to get treated. As per the current positioning of the intestines and rectum, there are many surgical procedures that can be used.

But surgeries like this take more time as they need full-body observation and testing, a specialized medical team, and equipment specially used for surgeries like this. So in this case your doctor conducts a temporary colostomy so that the stool can be passed before surgery.

A temporary colostomy is a medical procedure that creates two small openings in your abdomen region. The opening will be attached to the lower intestine or rectum and upper intestine. Both of the openings will get attached to a pouch that will collect the waste products or in this case stool of the newborn.

After that, surgeries like perineal anoplasty is conducted. This form of surgery is used to close any fistulas making the anal detached from the urethra or vagina. Within the same surgery, they also create a normal positioning of the anus.

In order to prevent any relapse or closing of the anus, it is important to stretch the anus periodically. This procedure is known as anal dilation, which can be learned and easily conducted at home. This is a short-term process and needs to do for a few months only.

Summary: Imperforate Anus treatment mainly focused on reconstructing and dilation of the new anal area. It also disconnects the rectum from other body parts making a normal passage for stool to pass.

The treatment of the genetic malfunction needed to complete within a week of birth. So breast milk or formula milk needs to be given to the infant.

Take medical help to seek more information regarding this. Usually, newborns should only be kept on mother’s milk or formula feed.

It depends on case to case. The common problem that has been experienced so far by newborns is constipation. Even after the surgery, stool inconsistency is seen amongst them.

Summary: Constipation is the most common problem that has been reported in newborns after undergoing Imperforate Anus treatments.

Yes, if the above symptoms match contact your medical professional immediately for early detection and treatment. Delay detection of Imperforate Anus often causes digestive problems such as infections, blockage, or internal damage.

The treatment of the disease merely depends on each case and the method of treatment that has been selected to do so. Depending upon the type of surgery your medical professional recommends it can take up to 1-4 weeks to achieve full recovery.

Medical consultation may start from INR 500 to INR 2000 per hour depending on the doctor. surgical procedures and post-care products can cost around 2-5 lac.

Summary: While medical consultation can be between INR 500 to 2000 INR per hour, imperforate anus surgery cost and post-care may cost you 2-5 lac depending upon the case, doctor, and other details of the medical facility.

There is no specific physical exercise designed in order to cure Imperforate Anus. But general movement recommended for newborns can be pursued.

Summary: Physical exercise in the infancy stage is very limited, especially in the case of Imperforate Anus. however, a little bit of movement may help the child to digest food at a better pace.

There is no specific medication available for now to cure Imperforate Anus. But the doctor may give medications like stool softeners, enemas, or laxatives for speedy surgery recovery. They will help your digestive system to function more effectively which puts lesser pressure on the newly located anus.

Summary: Best medications in case of the imperforate anus are stool softeners, enemas, or laxatives. They help with better digestion and softening of the stool.

Yes, surgery associated with Imperforate Anus will permanently align the position of the anus in its place. However one must keep post-treatment precautions in check in order to have a speedy and healthy recovery.

Summary: Treatment associated with Imperforate Anus includes both surgery and medications. Both of them offer permanent results if taken care of.

Apart from surgery, there is no alternative method that can be used to realign the position of the anus in the newborn. Furthermore, as per the problem, your doctor will give you the best suggestion to align the position of the anus of your infant.

Summary: There are no other forms of treatments that can be used to create or remap the direction of the anus in a human body. The patient has to stick to the current form of treatment.

People who are suffering from Imperforate Anus are eligible for the treatment. Also, newborns with the same set of symptoms mentioned above can be consulted to a doctor for diagnosis and treatment plans.

People who are not suffering from Imperforate Anus are not eligible for the treatment.

Post-treatment guidelines may include medication, anal dilation, and basic lifestyle changes. Your doctors will give you stool softeners, laxatives, and enemas to make digestion easy. Also, they will ask you to periodically stretch the baby's anal area in order to prevent any relapse.

Summary: Imperforate Anus is a medical abnormality that causes imperfect development or absence of anus. The location of the anus, in this case, is either connected to other parts like the vagina /penis, rectum, bladder, or fistula. The key symptom is of this medical condition is the absence of an anal hole at the time of birth.