Anorectal malformations
Anorectal Malformations
Anorectal malformations (pronunciation: an-o-REK-tal mal-for-MAY-shuns) are a group of birth defects that affect an individual's anus and rectum. The etymology of the term is derived from the Greek words 'ano' meaning 'up', 'rectal' referring to the rectum, and 'malformation' meaning 'poorly formed'.
Definition
Anorectal malformations are congenital anomalies that occur when the anus and rectum do not develop properly during the early stages of fetal development. This can result in a spectrum of disorders, ranging from mild anal anomalies to complex cloacal malformations.
Types
There are several types of anorectal malformations, including:
- Imperforate Anus: This is the most common type of anorectal malformation, where the opening to the anus is missing or blocked.
- Rectovestibular Fistula: In females, this malformation involves an abnormal connection between the rectum and the vaginal vestibule.
- Rectourethral Fistula: In males, this malformation involves an abnormal connection between the rectum and the urethra.
- Cloacal Malformation: This is a severe type of anorectal malformation where the rectum, vagina, and urinary tract meet and form a single common channel.
Symptoms
Symptoms of anorectal malformations can vary greatly depending on the type and severity of the malformation. Common symptoms include:
- Absence or abnormal location of the anal opening
- Presence of a fistula
- Constipation or incontinence
- Abdominal swelling
Diagnosis
Diagnosis of anorectal malformations typically involves a physical examination, imaging studies such as ultrasound or MRI, and sometimes genetic testing.
Treatment
Treatment for anorectal malformations usually involves surgery to correct the malformation. The type of surgery will depend on the type and severity of the malformation. Post-surgical care often involves management of bowel function and continence.
Related Terms
- Congenital Anomaly
- Fistula
- Imperforate Anus
- Rectovestibular Fistula
- Rectourethral Fistula
- Cloacal Malformation
External links
- Medical encyclopedia article on Anorectal malformations
- Wikipedia's article - Anorectal malformations
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