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Doctor insights on: Is Having An Imperforate Anus A Birth Hereditary

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Is having an imperforate anus a birth hereditary?

Is having an imperforate anus a birth hereditary?

Not usually: Imperforate anus is usually sporadic. It can occurr in conjuction with several syndromes such as the vacteral association but again is primarily sporadic. Additional research may provide additional information in the future.

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Dr. Charles Breaux
20 Doctors shared insights

Imperforate Anus (Definition)

An imperforate anus or anorectal malformations are birth defects in which the rectum is malformed. Anorectal malformations are a spectrum of different congenital anomalies in males and females, that varies from fairly minor lesions to complex anomalies. Even cause is unknown, a genetic basis is associated in ...Read more


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Can you tell me of a charity for imperforate anus?

Can you tell me of a charity for imperforate anus?

Charity: I'm not sure if you are looking for one to donate to or if you are looking for help for someone you know with the condition. I am not aware of a specific organization that just deals with imperforate anus. However, if you contact the Pediatric Surgery department of your local Children's Hospital, they likely have charitable foundations set up that deal with kids with this defect.

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What is the definition or description of: Imperforate anus?

Imperforate anus: An imperforate anus or anorectal malformations are birth defects in which the rectum is malformed. Anorectal malformations are a spectrum of different congenital anomalies in males and females, that varies from fairly minor lesions to complex anomalies. Even cause is unknown, a genetic basis is associated in about 10% of patients.

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What to do if I have imperforate anus and there's things I want to do in my life?

A colostomy remains: There are various degrees of imperforate anus. If a septum alone is present it can be perforated and bowel will function. Various forms of proctoplasty have been employed to leave a functional anus but if colostomy was required at birth, there is no way to repair the problem since pulling bowel thru area with no sphincter, leaves incontinence. People function with colostomies and irrigate stoma

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Can you be born with an imperforate anus?

Can you be born with an imperforate anus?

Yes: During fetal development the internal structure of the large intestine grows toward the point where the anus should be & the external skin meets it. If the two both attach & make the opening a normal anus is formed. If the inside doesn't make it all the way down, or the opening doesn't form it is imperforate. There are variations in degree and the amount of work needed to fix it.

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What is the best surgery for imperforate anus?

What is the best surgery for imperforate anus?

Depends: It depends on the level of the defect. If the defect is "low" or close to the perineal skin, an anoplasty can be done shortly after birth. If the defect is high, then a staged operation is needed. Initially the child will need a colostomy (temporary). Second stage is creation of anus. Third stage is closure of colostomy after the anoplasty heals.

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Is the surgery for an imperforate anus permanent?

Is the surgery for an imperforate anus permanent?

Define perminent!: The complexity of the surgery for anal defects varies with the defect. If it is a short pull thru and the sphincter muscles can be preserved a favorable outcome with a single procedure may be possible. A complex repair with take down of a fistula and complications may need modifiations over time. Some kids may never have control as they grow older. Each case has unique issues.

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Is it common to be born with an imperforate anus?

No: I can remember 3 cases in 30 plus years of practice.

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How often are surgeries for imperforate anus successful?

How often are surgeries for imperforate anus successful?

Almost always: As far as creating an outlet for passage of stool, operations for imperforate anus are almost always successful. However, depending upon the status of sphincter muscle present (poor with high and good with lower anomalies), the functional results may not be perfect. Children with lower anomalies tend towards constipation, while those with higher anomailes & poor muscle tend towards incontinence.

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Are there ways to prevent symptoms of an imperforate anus?

No: Imperforate anus is a congenital defect that occurs prior to birth and occurs sporadically without forwarning. Usually diagnosed at birth, treatment includes colostomy, anal reconstruction, and colostomy closure in a staged fashion. Hence prevention is nigh impossible at this time.

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When you are born, can you have a imperforate anus repair?

When you are born, can you have a imperforate anus repair?

You can and you will: Anal atresia (imperforate anus) is rare and associated with several syndromes. Once detected conclusively during the first neonatal examination, it is a surgical urgency and repair has to be done within hours of life (either definitive or preliminary, depending on the nature of the defect).

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What can be done for someone born with an imperforate anus?

What can be done for someone born with an imperforate anus?

Surgery: The fix on this varies with the degree of the defect. I have treated patients with a minor barrier or membrane, where the fix was just opening the anus and pulling through the rectal tissue. Others had a high defect, requiring a colostomy until they were older when a repair could be done. Data shows some, male or female where odd fistulas occur, requiring repair. All require specialized surgery.

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What is a imperforate anus?

What is a imperforate anus?

Terminology issues: The lower colon forms from tissue that develops an inner tube. It grows on the inside down to where the anal opening should be. As the internal tissue meets the outside skin from the inside, the skin barrier between the structures dissolves and the anus "perforates". If the internal structure does not come close to the skin, or the outer skin stays separate, the hole cannot form. (imperforate)

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What is an imperforate anus?

Lack of anal opening: An imperforate anus is a congenital anomaly in which a baby is born without an anal opening altogether, one that is too small, or one that is located in the wrong place (for example, opening into the vagina in a girl or into the bladder in a boy). It is definitively repaired with surgery to create a good anal opening in the right place. Sometimes, a colostomy is done first.

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What are the tests for imperforate anus?

What are the tests for imperforate anus?

Prenatal U/S, MRI.: Imperforate anus can be diagnosed with difficulty using prenatal ultrasound and confirmed with fetal mri. Obvioulsy, the physical examination and imaging studies in the nursery can easily diagnose this congenital anomaly after birth.

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Are there any known causes for imperforate anus?

Are there any known causes for imperforate anus?

Poor signals: The imperforate anus can occur in isolation or as part of a syndrome. During fetal development the gut starts as a sausage like mass that forms a central cavity, lengthens & moves down from the inside to join up with the external skin at the anus. The defect can be as minimal as a thin membrane in normal position or gut ending far from the anus. Poor signal decoding triggers this defect.

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Can there be any theoretical causes for imperforate anus?

Asking why: Don't seek any particular explanation for this fairly common birth defect. You won't find this inquiry productive. Any theorizing is idle speculation. Searches for the real cause (s) have been unrewarding.

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What is the treatment for imperforate anus?

A Pena Procedure: This procedure was named after alberto pena. Basically you pull a segment of colon down to the skin and create an opening.

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Are there any genetic causes for imperforate anus?

Are there any genetic causes for imperforate anus?

Not likely: No known genetic causes, although there are families with more than one child affected.

Anus (Definition)

The anus is the opening of the rectum, through which stool and flatus are passed. The anal canal is about an inch in length, and is ...Read more