Imperforate Anus

A congenital abnormality characterized by the persistence of the anal membrane, resulting in a thin membrane covering the normal ANAL CANAL. Imperforation is not always complete and is treated by surgery in infancy. This defect is often associated with NEURAL TUBE DEFECTS; MENTAL RETARDATION; and DOWN SYNDROME.

Also Known As:

Networked: 419 relevant articles (4 outcomes, 16 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Tracheoesophageal Fistula
2.	Esophageal Atresia
3.	Hirschsprung Disease (Hirschsprung's Disease)
4.	Constipation
5.	Fistula

Experts

1.	Solomon, Benjamin D: 6 articles (10/2014 - 01/2011)
2.	Gembruch, Ulrich: 4 articles (07/2015 - 05/2002)
3.	Reutter, Heiko: 3 articles (07/2015 - 07/2012)
4.	Ludwig, Michael: 3 articles (07/2015 - 07/2012)
5.	Huet, Frédéric: 3 articles (01/2006 - 04/2004)
6.	Thauvin-Robinet, Christel: 3 articles (01/2006 - 04/2004)
7.	Faivre, Laurence: 3 articles (01/2006 - 04/2004)
8.	Robert, E: 3 articles (11/2003 - 06/2001)
9.	Dott, Beatrice: 2 articles (12/2015 - 05/2008)
10.	Roth, Marie-Paule: 2 articles (12/2015 - 05/2008)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Imperforate Anus:

1.	Sacral agenesisIBA 03/01/1999 - "Incontinence ceased in seven of nine patients and improved notably in one; one patient with previous imperforate anus and sacral agenesis had no symptomatic response. " 04/01/2013 - "SNS may be effective for some incontinent patients with imperforate anus even in the presence of partial sacral agenesis. " 06/01/2012 - "This case presents an adult patient with a medical history of a congenital anal atresia, a partial sacral agenesis, and a surgically treated ectopic anus. " 09/01/2003 - "The authors describe a technique for construction of a continent catheterizable stoma from distal defunctionalized colon in a patient with imperforate anus, urethral atresia, and sacral agenesis." 01/01/2008 - "The condition is thought to be part of a spectrum including imperforate anus, sacral agenesis and sirenomelia. "
2.	Tracheal agenesisIBA 01/01/1998 - "According to development theory, tracheal agenesis and VACTERL (vertebral defects, anal atresia, cardiovascular defects, tracheoesophageal fistula, radial dysplasia or renal defects and limb defects association may result from a mesodermal deficiency caused by abnormal blastogenesis." 07/01/1989 - "Reported herein, is a clinical and necropsy report of a premature infant whose tracheal agenesis was associated with broncho-esophageal fistulas and an imperforate anus. " 01/01/1985 - "Four newborns had tracheal agenesis and numerous features of the VATER (vertebral defects, imperforate anus, tracheoesophageal fistula, and radial and renal dysplasia) association. " 05/01/2009 - "We report a case of type I tracheal agenesis with vertebral defects, anal atresia, tracheoesophageal fistula and/or esophageal atresia, radial dysplasia, renal defects, and cardiovascular defects association in which computed tomography was helpful in categorizing the diagnosis. " 09/01/2003 - "Tracheal agenesis had previously been reported as a part of the VATER (vertebral defects, anal atresia, tracheoesophageal fistula and/or esophageal atresia, radial dysplasia, renal defects) and VACTERL (VATER plus cardiovascular and limb defects) associations/syndromes. "
3.	VATER associationIBA 03/01/2005 - "Anal atresia is a relatively common congenital malformation that occurs in about 1 out of 5000 infants, caused by abnormal hindgut development of the embryo, often associated with other developmental anomalies (e.g., Currarino, Townes-Brock, Pallister-Hall syndromes, and VATER association). " 03/01/1977 - "The radial dysplasia/imperforate anus/vertebral anomalies syndrome (the VATER association): Developmental aspects and eye findings." 02/01/2013 - "VACTERL/VATER association is a group of congenital malformations characterized by at least 3 of the following findings: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities. " 01/01/2011 - "The management of patients with VACTERL/VATER association typically centers around surgical correction of the specific congenital anomalies (typically anal atresia, certain types of cardiac malformations, and/or tracheo-esophageal fistula) in the immediate postnatal period, followed by long-term medical management of sequelae of the congenital malformations. " 01/01/2011 - "VACTERL/VATER association is typically defined by the presence of at least three of the following congenital malformations: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities. "
4.	Familial duodenal atresiaIBA 09/01/2005 - "A number of other operations were required in these patients, including imperforate anus repair in 10 patients (7 high, 3 low), aortopexy (7), laparoscopic duodenal atresia repair (4), and various major cardiac operations (5). " 08/01/2000 - "The other patient showed separated duodenal atresia and other multiple anomalies including imperforate anus. " 06/01/2000 - "Sonic hedgehog mutants display intestinal transformation of the stomach, duodenal stenosis (obstruction), abnormal innervation of the gut and imperforate anus. " 09/01/1999 - "Consistent with findings reported previously in smaller case series, our findings showed a notable prevalence of imperforate anus (9.0%) and duodenal atresia (5.2%), among other gastrointestinal defects. " 09/01/1998 - "18 cases of fetal GI obstruction were diagnosed amongst 17,036 women who underwent MSAFP screening between 1979 and 1997: seven had oesophageal atresia, four had duodenal atresia, six had anal atresia, and one had both anal and oesophageal atresia. "
5.	Annular pancreasIBA 04/01/2004 - "TAR syndrome with annular pancreas and anal atresia - a case report." 04/01/2004 - "Our case is unique; the association with annular pancreas and anal atresia with rectovestibular fistula has never been previously reported." 11/01/2011 - "Gastrointestinal symptoms, such as pyloric stenosis, anal atresia, annular pancreas, and rectovaginal fistula, have also been reported sporadically. " 10/01/2007 - "Mutations in Shh, Ihh, and downstream signaling molecules lead to a variety of gross malformations of the murine gastrointestinal tract including esophageal atresia, tracheoesophageal fistula, annular pancreas, midgut malrotation, and duodenal and anal atresia. " 01/01/1994 - "There were several associated anomalies, such as occult spina bifida, syringomyelia, sacrococcygeal dysgenesis, high-types imperforate anus, genitourinary anomalies, congenital heart disease, talipes equinovarus and annular pancreas. "
6.	Transcription Factors (Transcription Factor)IBA 12/01/2013 - "Recently, the Shh-responsive transcription factor GLI2 has been shown as essential to the normal development of the hindgut, and QTL studies in pigs revealed that this gene may be an important candidate for anal atresia (AA). " 08/01/2001 - "Mutant mice lacking Gli2 or Gli3, two zinc finger transcription factors involved in Shh signaling, respectively, exhibit imperforate anus with recto-urethral fistula and anal stenosis. "
7.	Lorazepam (Ativan)FDA LinkGeneric 11/01/2003 - "Six cases of anal atresia were found among all newborns exposed to BZD in utero, and five of them were exposed to lorazepam, representing a hypothesis to be tested in further. " 11/01/2003 - "Step 4: similarly, the lorazepam/anal atresia finding was upheld when the analysis was restricted to the 262 malformed infants exposed to BZDs in utero. " 11/01/2003 - "Step 2: further defining drug exposure as a specific BZD, and all others unexposed, a significant association was seen between lorazepam and anal atresia. " 11/01/2003 - "Is there a risk for anal atresia with lorazepam?]." 08/01/2001 - "Maternal exposure to lorazepam and anal atresia in newborns: results from a hypothesis-generating study of benzodiazepines and malformations."
8.	Complement System Proteins (Complement)IBA 08/01/1991 - "Therefore, early urodynamic study is recommended for all patients with an imperforate anus and it should complement neonatal uroradiographic evaluation. " 02/26/1986 - "[Physical therapy for better control of defecation is an effective complement to surgery of anal atresia]."
9.	Pallister Killian syndromeIBA 11/01/1988 - "Case of Pallister-Killian syndrome with imperforate anus." 06/01/1994 - "The proband of this study was a one-day-old female, who presented with major clinical characteristics of the Pallister-Killian syndrome, and had severe malformations in the form of anal atresia, cleft palate, and severe laryngomalacia. "
10.	tranilast (N 5')IBA 04/01/1999 - "Causes of fistulas included Crohn's disease (n = 3), previous rectal surgery (n = 5), anal atresia (n = 1), and sphincter repair (n = 1). " 01/01/2006 - "The purpose of this study is to report our 4-year experience with the cecostomy procedure in 31 children with functional constipation (n = 9), Hirschsprung's disease (n = 2), imperforate anus (n = 5), spinal abnormalities (n = 8), and imperforate anus in combination with tethered spinal cord (n = 7). "

Therapies and Procedures

1.	Colostomy 05/01/1931 - "A Case of Imperforate Anus Relieved by Colostomy in an Infant two days old: Closure of the Colostomy at the age of Six Years." 01/01/2015 - "He had undergone sigmoid loop colostomy for an imperforate anus as a newborn infant. " 10/01/2012 - "In nine cases, imperforate anus was the indication of colostomy. " 05/01/2011 - "Normal control colon tissue was obtained from ten patients who underwent a colostomy closure for imperforate anus. " 07/01/2010 - "Children younger than 18 years with imperforate anus who had a colostomy closure between January 1996 and December 2007 were identified. "
2.	Psychology Biofeedback (Biofeedback) 03/01/2005 - "The aim of this study was to design an individualized biofeedback program based on the underlying dysfunctions and to assess the short-term and long-term clinical and quality-of-life outcomes for patients with imperforate anus. " 03/17/2004 - "The aim of this study was to design a individualized biofeedback program based on the underlying dysfunctions and to assess the short-term and long-term clinical and quality of life outcomes for patients with imperforate anus. " 03/01/2005 - "Long-term outcomes of individualized biofeedback training based on the underlying dysfunction for patients with imperforate anus." 03/17/2004 - "The causes of postoperative fecal dysfunction in patients with imperforate anus are multifactorial, and the individualized biofeedback is more suitable for improvement of the clinical outcome and the quality of life, and it maintain good clinical outcome and quality of life at short-term and long-term follow-up." 03/17/2004 - "[Long-term outcomes of individualized biofeedback training based on the underlying dysfunction for patients with imperforate anus]."
3.	Intermittent Urethral Catheterization 09/01/2000 - "Other risk factors were cloacal malformations, vaginal reconstructions, anal atresia, clean intermittent catheterization problems and retention, bladder neck surgery, and symptomatic urinary tract infections. " 07/01/2006 - "Seven 4 to 12-year-old patients with high congenital imperforate anus and 9 who were 6 to 13 years old with spina bifida, no mental retardation and no involuntary urine loss on clean intermittent catheterization were included in the study. "
4.	Cecostomy 03/01/2002 - "Therapeutic cecostomy tubes in infants with imperforate anus and caudal agenesis." 01/01/2006 - "The purpose of this study is to report our 4-year experience with the cecostomy procedure in 31 children with functional constipation (n = 9), Hirschsprung's disease (n = 2), imperforate anus (n = 5), spinal abnormalities (n = 8), and imperforate anus in combination with tethered spinal cord (n = 7). "
5.	Ligation 08/01/1976 - "Retropulsion of artificial fecal pellets occurred in vitro in normal bowel obstructed by a ligature, in the bowel of piebald mice with a narrowed terminal segment, and in the intestine of mice with imperforate anus. " 04/01/2009 - "Twelve patients with imperforate anus with rectovesical or rectoprostatic fistula had fistula ligation with this technique. " 04/01/2008 - "Our technique of fistula ligation and centering of bowel during the laparoscopically-assisted anorectal pull-through (LAARP) for the high-imperforate anus is described. " 06/01/2009 - "The following operations were classified as clean: pyloromyotomy, resection of sequestration, resection of sacrococcygeal teratoma, oophorectomy, and immediate repair of omphalocele; as clean-contaminated: Ladd procedure, bowel resection for midgut volvulus and meconium peritonitis, fistula ligation of tracheoesophageal fistula, primary esophageal anastomosis of esophageal atresia, thoracic lobectomy, staged closure of gastroschisis, delayed repair and primary closure of omphalocele, perineal anoplasty and diverting colostomy for imperforate anus, anal pull-through for Hirschsprung disease, and colostomy closure; and as dirty: perforated necrotizing enterocolitis. " 10/01/2008 - "43 different procedures were performed, the most common being Nissen fundoplication (310 cases, average operating room (OR) time 43 min, average time to full feeds 2 days), pyloromyotomy (104 cases, average OR time 12.5 min, average hospital days<1), patent ductus arteriosum (PDA) ligation (26 cases, average OR time 31 min, average hospital days<1), tracheoesophageal fistula (TEF) repair (22 cases, average OR time 83 min, average time to full feeds 7.8 days), duodenoduodenostomy (20 cases, average OR time 76 min, average time to full feeds 8.6 days), colonic pull-through for Hirschsprung's disease (18 cases, average OR time 109.6 min, average time to full feeds 3 days), colonic pull-through for imperforate anus (10 cases, average OR time 103 min, average hospital days 2), lung resection (12 cases, average OR time 66.8 min, average hospital days 1.75), congenital diaphragmatic hernia repair (10 cases, average OR time 62.5 min, average time to full feeds 4.75 days). "