Mowat-Wilson syndrome

Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized by a distinct facial phenotype, intellectual disability, epilepsy, Hirschsprung disease (HSCR; see this term) and variable congenital malformations.

Microcephaly

Head circumference below 2 standard deviations below the mean for age and gender.


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PMID (PMCID)
30083364
(6070557)
 OTHER
Exome-first approach identified novel INDELs and gene deletions in Mowat-Wilson Syndrome patients.
Gosso MF, Rohr C, Brun B, Mejico G, Madeira F, Fay F, Klurfan M, Vazquez M.
Hum Genome Var. 2018;5:21.
Mowat-Wilson syndrome (MWS) is characterized by severe intellectual disability, absent or impaired speech and microcephaly, with a gradual post-natal onset.
26012591
 MALE Infant
Polymicrogyria in a 10-month-old boy with Mowat-Wilson syndrome.
Murray SB, Spangler BB, Helm BM, Vergano SS.
Am J Med Genet A. 2015;167A(10):2402-5.
Mowat-Wilson syndrome (MWS, OMIM# 235730) is a multiple congenital anomaly disorder characterized by intellectual disability, seizures, microcephaly, and distinct facial features.
25028418
 FEMALE
ZEB2 gene mutation and duplication of 22q11.23 in Mowat-Wilson syndrome.
Buraniqi E, Moodley M.
J Child Neurol. 2015;30(1):32-6.
Mowat-Wilson syndrome is a recently delineated multiple congenital anomaly syndrome characterized by a distinctive facial appearance in association with intellectual disability, microcephaly, agenesis of the corpus callosum, seizures, congenital heart disease, Hirschsprung disease, short stature, and genitourinary anomalies.
23466526
 MIXED_SAMPLE
ZEB2 zinc-finger missense mutations lead to hypomorphic alleles and a mild Mowat-Wilson syndrome.
Ghoumid J, Drevillon L, Alavi-Naini SM, Bondurand N, Rio M, Briand-Suleau A, Nasser M, Goodwin L, Raymond P, Yanicostas C, Goossens M, Lyonnet S, Mowat D, Amiel J, Soussi-Yanicostas N, Giurgea I.
Hum Mol Genet. 2013;22(13):2652-61.
Mowat-Wilson syndrome (MWS) is a severe intellectual disability (ID)-distinctive facial gestalt-multiple congenital anomaly syndrome, commonly associating microcephaly, epilepsy, corpus callosum agenesis, conotruncal heart defects, urogenital malformations and Hirschsprung disease (HSCR).
22486326
 FEMALE Child
Ophthalmologic abnormalities in Mowat-Wilson syndrome and a mutation in ZEB2.
Ariss M, Natan K, Friedman N, Traboulsi EI.
Ophthalmic Genet. 2012;33(3):159-60.
Mowat-Wilson syndrome is a genetic disorder characterized by a distinct facial appearance, moderate-to-severe mental retardation, microcephaly, agenesis of the corpus callosum, Hirschsprung disease, congenital heart disease, and genital anomalies.
15908750
 MALE Infant, Newborn
Genitourinary anomalies in Mowat-Wilson syndrome with deletion/mutation in the zinc finger homeo box 1B gene (ZFHX1B). Report of three Italian cases with hypospadias and review.
Garavelli L, Cerruti-Mainardi P, Virdis R, Pedori S, Pastore G, Godi M, Provera S, Rauch A, Zweier C, Zollino M, Banchini G, Longo N, Mowat D, Neri G, Bernasconi S.
Horm Res. 2005;63(4):187-92.
Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized by a distinct facial phenotype, Hirschsprung disease, microcephaly and mental retardation.
16088920
 MIXED_SAMPLE Infant, Newborn
Recurrence of Mowat-Wilson syndrome in siblings with the same proven mutation.
McGaughran J, Sinnott S, Dastot-Le Moal F, Wilson M, Mowat D, Sutton B, Goossens M.
Am J Med Genet A. 2005;137A(3):302-4.
Mowat-Wilson syndrome (MWS) is a mental retardation syndrome associated with distinctive facial features, microcephaly, epilepsy, and a variable spectrum of congenital anomalies, including Hirschsprung disease (HSCR), agenesis of the corpus callosum, genitourinary abnormalities, and congenital heart disease.