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Xu, R. Mowat-Wilson Syndrome. Encyclopedia. Available online: https://encyclopedia.pub/entry/4281 (accessed on 27 September 2026).
Xu R. Mowat-Wilson Syndrome. Encyclopedia. Available at: https://encyclopedia.pub/entry/4281. Accessed September 27, 2026.
Xu, Rita. "Mowat-Wilson Syndrome" Encyclopedia, https://encyclopedia.pub/entry/4281 (accessed September 27, 2026).
Xu, R. (2020, December 23). Mowat-Wilson Syndrome. In Encyclopedia. https://encyclopedia.pub/entry/4281
Xu, Rita. "Mowat-Wilson Syndrome." Encyclopedia. Web. 23 December, 2020.
Mowat-Wilson Syndrome
Edit

Mowat-Wilson syndrome is a genetic condition that affects many parts of the body. Major signs of this disorder frequently include distinctive facial features, intellectual disability, delayed development, an intestinal disorder called Hirschsprung disease, and other birth defects.

genetic conditions

References

  1. Adam MP, Conta J, Bean LJH. Mowat-Wilson Syndrome. 2007 Mar 28 [updated 2019Jul 25]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K,Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University ofWashington, Seattle; 1993-2020. Available fromhttp://www.ncbi.nlm.nih.gov/books/NBK1412/
  2. Adam MP, Schelley S, Gallagher R, Brady AN, Barr K, Blumberg B, Shieh JT,Graham J, Slavotinek A, Martin M, Keppler-Noreuil K, Storm AL, Hudgins L.Clinical features and management issues in Mowat-Wilson syndrome. Am J Med Genet A. 2006 Dec 15;140(24):2730-41.
  3. Evans E, Einfeld S, Mowat D, Taffe J, Tonge B, Wilson M. The behavioralphenotype of Mowat-Wilson syndrome. Am J Med Genet A. 2012 Feb;158A(2):358-66.doi: 10.1002/ajmg.a.34405.
  4. Garavelli L, Zollino M, Mainardi PC, Gurrieri F, Rivieri F, Soli F, Verri R,Albertini E, Favaron E, Zignani M, Orteschi D, Bianchi P, Faravelli F, Forzano F,Seri M, Wischmeijer A, Turchetti D, Pompilii E, Gnoli M, Cocchi G, Mazzanti L,Bergamaschi R, De Brasi D, Sperandeo MP, Mari F, Uliana V, Mostardini R, Cecconi M, Grasso M, Sassi S, Sebastio G, Renieri A, Silengo M, Bernasconi S, WakamatsuN, Neri G. Mowat-Wilson syndrome: facial phenotype changing with age: study of 19Italian patients and review of the literature. Am J Med Genet A. 2009Mar;149A(3):417-26. doi: 10.1002/ajmg.a.32693. Review.
  5. Ishihara N, Yamada K, Yamada Y, Miura K, Kato J, Kuwabara N, Hara Y, KobayashiY, Hoshino K, Nomura Y, Mimaki M, Ohya K, Matsushima M, Nitta H, Tanaka K, SegawaM, Ohki T, Ezoe T, Kumagai T, Onuma A, Kuroda T, Yoneda M, Yamanaka T, Saeki M,Segawa M, Saji T, Nagaya M, Wakamatsu N. Clinical and molecular analysis ofMowat-Wilson syndrome associated with ZFHX1B mutations and deletions at2q22-q24.1. J Med Genet. 2004 May;41(5):387-93.
  6. Mowat DR, Wilson MJ, Goossens M. Mowat-Wilson syndrome. J Med Genet. 2003May;40(5):305-10. Review.
  7. Wenger TL, Harr M, Ricciardi S, Bhoj E, Santani A, Adam MP, Barnett SS,Ganetzky R, McDonald-McGinn DM, Battaglia D, Bigoni S, Selicorni A, Sorge G,Monica MD, Mari F, Andreucci E, Romano S, Cocchi G, Savasta S, Malbora B, MarangiG, Garavelli L, Zollino M, Zackai EH. CHARGE-like presentation, craniosynostosis and mild Mowat-Wilson Syndrome diagnosed by recognition of the distinctive facialgestalt in a cohort of 28 new cases. Am J Med Genet A. 2014 Oct;164A(10):2557-66.doi: 10.1002/ajmg.a.36696.Jul;167(7):1682-3.
  8. Wilson M, Mowat D, Dastot-Le Moal F, Cacheux V, Kääriäinen H, Cass D, DonnaiD, Clayton-Smith J, Townshend S, Curry C, Gattas M, Braddock S, Kerr B, AftimosS, Zehnwirth H, Barrey C, Goossens M. Further delineation of the phenotypeassociated with heterozygous mutations in ZFHX1B. Am J Med Genet A. 2003 Jun15;119A(3):257-65.
  9. Zollino M, Garavelli L, Rauch A. Clinical utility gene card for: Mowat-Wilson syndrome. Eur J Hum Genet. 2011 Aug;19(8). doi: 10.1038/ejhg.2011.12.
  10. Zweier C, Albrecht B, Mitulla B, Behrens R, Beese M, Gillessen-Kaesbach G,Rott HD, Rauch A. "Mowat-Wilson" syndrome with and without Hirschsprung diseaseis a distinct, recognizable multiple congenital anomalies-mental retardationsyndrome caused by mutations in the zinc finger homeo box 1B gene. Am J MedGenet. 2002 Mar 15;108(3):177-81.
  11. Zweier C, Thiel CT, Dufke A, Crow YJ, Meinecke P, Suri M, Ala-Mello S, Beemer F, Bernasconi S, Bianchi P, Bier A, Devriendt K, Dimitrov B, Firth H, GallagherRC, Garavelli L, Gillessen-Kaesbach G, Hudgins L, Kääriäinen H, Karstens S,Krantz I, Mannhardt A, Medne L, Mücke J, Kibaek M, Krogh LN, Peippo M, Rittinger O, Schulz S, Schelley SL, Temple IK, Dennis NR, Van der Knaap MS, Wheeler P,Yerushalmi B, Zenker M, Seidel H, Lachmeijer A, Prescott T, Kraus C, Lowry RB,Rauch A. Clinical and mutational spectrum of Mowat-Wilson syndrome. Eur J MedGenet. 2005 Apr-Jun;48(2):97-111.
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