Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Mowat-Wilson syndrome

Microcephaly, mental retardation, and distinct facial features, with or without Hirschsprung disease is an autosomal recessive disorder caused by mutations of the ZEB2 gene. In addition to the dysmorphic features already mentioned urogenital anomalies can be found occasionally.


Congenital abnormalities of the kidney and urinary tract
Acro-renal-ocular syndrome
Aplasia of lacrimal and salivary glands
Autosomal dominant Robinow syndrome 1
Autosomal recessive Robinow syndrome
BNAR syndrome
Brain malformations with urinary tract defects
Branchio-oculo-facial syndrome
Branchiootic syndrome
Branchiootorenal dysplasia
CHARGE syndrome
Congenital anomalies of kidney and urinary tract 1
Congenital anomalies of kidney and urinary tract 2
Congenital hypogonadotropic hypogonadism with anosmia 1
Congenital hypogonadotropic hypogonadism without anosmia 5
Denys-Drash syndrome
Fraser syndrome
Frasier syndrome
Goldberg-Shprintzen syndrome
IVIC syndrome
Ivemark syndrome
Kabuki syndrome
Lacrimoauriculodentodigital syndrome
Mowat-Wilson syndrome
Papillorenal syndrome
Renal cysts and diabetes (RCAD)
Renal dysplasia with hypopituitarism and diabetes
Renal hypodysplasia/aplasia
Renal tubular dysgenesis
Renal-hepatic-pancreatic dysplasia
SERKAL syndrome
Simpson-Golabi-Behmel syndrome
Smith-Lemli-Opitz syndrome
Somatic nephroblastoma
Susceptibility to cystic renal dysplasia
Syndromic microphthalmia 6
Urofacial syndrome
Vesicoureteral reflux
WAGR syndrome



de Pontual L et. al. (2006) Mutations of the RET gene in isolated and syndromic Hirschsprung's disease in human disclose major and modifier alleles at a single locus.


Mowat DR et. al. (1998) Hirschsprung disease, microcephaly, mental retardation, and characteristic facial features: delineation of a new syndrome and identification of a locus at chromosome 2q22-q23.


Wakamatsu N et. al. (2001) Mutations in SIP1, encoding Smad interacting protein-1, cause a form of Hirschsprung disease.


Cacheux V et. al. (2001) Loss-of-function mutations in SIP1 Smad interacting protein 1 result in a syndromic Hirschsprung disease.


Yamada K et. al. (2001) Nonsense and frameshift mutations in ZFHX1B, encoding Smad-interacting protein 1, cause a complex developmental disorder with a great variety of clinical features.


Amiel J et. al. (2001) Large-scale deletions and SMADIP1 truncating mutations in syndromic Hirschsprung disease with involvement of midline structures.


Zweier C et. al. (2002) "Mowat-Wilson" syndrome with and without Hirschsprung disease is a distinct, recognizable multiple congenital anomalies-mental retardation syndrome caused by mutations in the zinc finger homeo box 1B gene.


Yoneda M et. al. (2002) Late infantile Hirschsprung disease-mental retardation syndrome with a 3-bp deletion in ZFHX1B.


Zweier C et. al. (2003) Characterisation of deletions of the ZFHX1B region and genotype-phenotype analysis in Mowat-Wilson syndrome.


Ishihara N et. al. (2004) Clinical and molecular analysis of Mowat-Wilson syndrome associated with ZFHX1B mutations and deletions at 2q22-q24.1.


McGaughran J et. al. (2005) Recurrence of Mowat-Wilson syndrome in siblings with the same proven mutation.


Zweier C et. al. (2006) Atypical ZFHX1B mutation associated with a mild Mowat-Wilson syndrome phenotype.


Heinritz W et. al. (2006) A missense mutation in the ZFHX1B gene associated with an atypical Mowat-Wilson syndrome phenotype.


Dastot-Le Moal F et. al. (2007) ZFHX1B mutations in patients with Mowat-Wilson syndrome.


Ghoumid J et. al. (2013) ZEB2 zinc-finger missense mutations lead to hypomorphic alleles and a mild Mowat-Wilson syndrome.


Hurst JA et. al. (1988) Unknown syndrome: Hirschsprung's disease, microcephaly, and iris coloboma: a new syndrome of defective neuronal migration.


Tanaka H et. al. () Hirschsprung disease, unusual face, mental retardation, epilepsy, and congenital heart disease: Goldberg-Shprintzen syndrome.


Ohnuma K et. al. (1997) Magnetic resonance imaging abnormalities of the brain in Goldberg-Shprintzen syndrome (Hirschsprung disease, microcephaly, and iris coloboma)


Garavelli L et. al. (2003) Hirschsprung disease, mental retardation, characteristic facial features, and mutation in the gene ZFHX1B (SIP1): confirmation of the Mowat-Wilson syndrome.


Mowat DR et. al. (2003) Mowat-Wilson syndrome.


Wilson M et. al. (2003) Further delineation of the phenotype associated with heterozygous mutations in ZFHX1B.


Horn D et. al. (2004) Facial phenotype allows diagnosis of Mowat-Wilson syndrome in the absence of Hirschsprung disease.


Cerruti Mainardi P et. al. (2004) Mowat-Wilson syndrome and mutation in the zinc finger homeo box 1B gene: a well defined clinical entity.


Silengo M et. al. (2004) Pachygyria and cerebellar hypoplasia in a patient with a 2q22-q23 deletion that includes the ZFHX1B gene.


Zweier C et. al. () Clinical and mutational spectrum of Mowat-Wilson syndrome.


Adam MP et. al. (2006) Clinical features and management issues in Mowat-Wilson syndrome.


Strenge S et. al. (2007) Pulmonary artery sling and congenital tracheal stenosis in another patient with Mowat-Wilson syndrome.


Engenheiro E et. al. (2008) Mowat-Wilson syndrome: an underdiagnosed syndrome?


Cecconi M et. al. (2008) Recurrence of Mowat-Wilson syndrome in siblings with a novel mutation in the ZEB2 gene.


Garavelli L et. al. (2009) Mowat-Wilson syndrome: facial phenotype changing with age: study of 19 Italian patients and review of the literature.


Evans E et. al. (2012) The behavioral phenotype of Mowat-Wilson syndrome.


Cordelli DM et. al. (2013) Epilepsy in Mowat-Wilson syndrome: delineation of the electroclinical phenotype.

Update: Sept. 26, 2018