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MeSH Review

Anus, Imperforate

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Disease relevance of Anus, Imperforate


Psychiatry related information on Anus, Imperforate


High impact information on Anus, Imperforate

  • Characterization of a new syndrome that associates craniosynostosis, delayed fontanel closure, parietal foramina, imperforate anus, and skin eruption: CDAGS [7].
  • Defects in the first pathway explain imperforate anus, vaginal septum, genital hypoplasia, and micropenis reported in humans with p63 mutations [8].
  • Folic acid supplementation and risk for imperforate anus in China [9].
  • PURPOSE: Urinary tract malformations have been described in up to 50% of patients with imperforate anus but genital anomalies have been less well analyzed in the same patient population [10].
  • We report a case of bilateral ureteral triplication associated with crossed ectopic fused kidneys, vesicoureteral reflux and the VACTERL syndrome (Vertebral defects, Anal atresia, Cardiovascular anomalies, Tracheo-Esophageal fistula, Radial and renal anomalies, and Limb defects) [11].

Chemical compound and disease context of Anus, Imperforate


Biological context of Anus, Imperforate


Anatomical context of Anus, Imperforate


Gene context of Anus, Imperforate


  1. Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22. Quaderi, N.A., Schweiger, S., Gaudenz, K., Franco, B., Rugarli, E.I., Berger, W., Feldman, G.J., Volta, M., Andolfi, G., Gilgenkrantz, S., Marion, R.W., Hennekam, R.C., Opitz, J.M., Muenke, M., Ropers, H.H., Ballabio, A. Nat. Genet. (1997) [Pubmed]
  2. SALL1, the gene mutated in Townes-Brocks syndrome, encodes a transcriptional repressor which interacts with TRF1/PIN2 and localizes to pericentromeric heterochromatin. Netzer, C., Rieger, L., Brero, A., Zhang, C.D., Hinzke, M., Kohlhase, J., Bohlander, S.K. Hum. Mol. Genet. (2001) [Pubmed]
  3. Cat eye syndrome owing to tetrasomy 22pter leads to q11. Wilson, G.N., Baker, D.L., Schau, J., Parker, J. J. Med. Genet. (1984) [Pubmed]
  4. Microdeletion 22q11 and oesophageal atresia. Digilio, M.C., Marino, B., Bagolan, P., Giannotti, A., Dallapiccola, B. J. Med. Genet. (1999) [Pubmed]
  5. Pallister-Killian syndrome: additional manifestations of cleft palate and sacral appendage. McLeod, D.R., Wesselman, L.R., Hoar, D.I. J. Med. Genet. (1991) [Pubmed]
  6. Prenatal diagnosis of Opitz (BBB) syndrome in the second trimester by ultrasound detection of hypospadias and hypertelorism. Hogdall, C., Siegel-Bartelt, J., Toi, A., Ritchie, S. Prenat. Diagn. (1989) [Pubmed]
  7. Characterization of a new syndrome that associates craniosynostosis, delayed fontanel closure, parietal foramina, imperforate anus, and skin eruption: CDAGS. Mendoza-Londono, R., Lammer, E., Watson, R., Harper, J., Hatamochi, A., Hatamochi-Hayashi, S., Napierala, D., Hermanns, P., Collins, S., Roa, B.B., Hedge, M.R., Wakui, K., Nguyen, D., Stockton, D.W., Lee, B. Am. J. Hum. Genet. (2005) [Pubmed]
  8. p63 Coordinates anogenital modeling and epithelial cell differentiation in the developing female urogenital tract. Ince, T.A., Cviko, A.P., Quade, B.J., Yang, A., McKeon, F.D., Mutter, G.L., Crum, C.P. Am. J. Pathol. (2002) [Pubmed]
  9. Folic acid supplementation and risk for imperforate anus in China. Myers, M.F., Li, S., Correa-Villaseñor, A., Li, Z., Moore, C.A., Hong, S.X., Berry, R.J. Am. J. Epidemiol. (2001) [Pubmed]
  10. Genital malformations and coexistent urinary tract or spinal anomalies in patients with imperforate anus. Metts, J.C., Kotkin, L., Kasper, S., Shyr, Y., Adams, M.C., Brock, J.W. J. Urol. (1997) [Pubmed]
  11. Bilateral ureteral triplication with crossed ectopic fused kidneys associated with the VACTERL syndrome. Golomb, J., Ehrlich, R.M. J. Urol. (1989) [Pubmed]
  12. X-linked skeletal dysplasia with mental retardation. Christian, J.C., DeMyer Franken, E.A., Huff, J.S., Khairi, S., Reed, T. Clin. Genet. (1977) [Pubmed]
  13. Magnetic resonance imaging as an adjunct to planning an anorectal pull-through. Pringle, K.C., Sato, Y., Soper, R.T. J. Pediatr. Surg. (1987) [Pubmed]
  14. Maternal serum alpha-fetoprotein in fetal anal atresia and other gastro-intestinal obstructions. Van Rijn, M., Christaens, G.C., Hagenaars, A.M., Visser, G.H. Prenat. Diagn. (1998) [Pubmed]
  15. Effect of loperamide on faecal control after rectoplasty for high imperforate anus. Arnbjörnsson, E., Breland, U., Kullendorff, C.M., Okmian, L. Acta chirurgica Scandinavica. (1986) [Pubmed]
  16. A new polyurethane anal plug in the treatment of incontinence after anal atresia repair. Pfrommer, W., Holschneider, A.M., Löffler, N., Schauff, B., Ure, B.M. European journal of pediatric surgery : official journal of Austrian Association of Pediatric Surgery ... [et al] = Zeitschrift für Kinderchirurgie. (2000) [Pubmed]
  17. Prenatal diagnosis of 13q-syndrome in a fetus with Dandy-Walker malformation. Gul, A., Cebeci, A., Erol, O., Ceylan, Y., Basaran, S., Yuksel, A. Obstetrics and gynecology. (2005) [Pubmed]
  18. New' manifestations of BOR syndrome. Weber, K.M., Kousseff, B.G. Clin. Genet. (1999) [Pubmed]
  19. Anomalies associated with vertebral malformations. Beals, R.K., Robbins, J.R., Rolfe, B. Spine. (1993) [Pubmed]
  20. Tibial agenesis with radial ray and cardiovascular defects. Evans, J.A., Greenberg, C.R. Clin. Dysmorphol. (2002) [Pubmed]
  21. A novel syndrome involving primary skeletal growth and retardation in siblings. Hadziselimovic, F., Fliegel, C.H., Miny, P. Clin. Dysmorphol. (2001) [Pubmed]
  22. Primary immunodeficiency in combination with transverse upper limb defect and anal atresia in a 34-year-old patient with Jacobsen syndrome. von Bubnoff, D., Kreiss-Nachtsheim, M., Novak, N., Engels, E., Engels, H., Behrend, C., Propping, P., de la Salle, H., Bieber, T. Am. J. Med. Genet. A (2004) [Pubmed]
  23. Ankyloblepharon filiforme adnatum and imperforate anus: a new family with apparently autosomal dominant inheritance. Brøndum-Nielsen, K. Am. J. Med. Genet. (1993) [Pubmed]
  24. Lowe syndrome with anal atresia: a possible variant of OCRL? Sönmez, F., Temoçýn, A.K., Ozkan, S.B., Akçanal, B., Karaman, C.Z., Türkmen, M., Inan, G. Pediatrics international : official journal of the Japan Pediatric Society. (2003) [Pubmed]
  25. Syndrome of imperforate anus, abnormalities of hands and feet, satyr ears, and sensorineural deafness. Walpole, I.R., Hockey, A. J. Pediatr. (1982) [Pubmed]
  26. Chromosome 7 short arm deletion, 7p21----pter. Schömig-Spingler, M., Schmid, M., Brosi, W., Grimm, T. Hum. Genet. (1986) [Pubmed]
  27. Trisomy 16 and trisomy 16 Mosaicism: a review. Benn, P. Am. J. Med. Genet. (1998) [Pubmed]
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