Mowat-Wilson Syndrome (MOWS)

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MedlinePlus Genetics: ⁴² 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.Children with Mowat-Wilson syndrome have a square-shaped face with deep-set, widely spaced eyes. They also have a broad nasal bridge with a rounded nasal tip; a prominent and pointed chin; large, flaring eyebrows; and uplifted earlobes with a dimple in the middle. These facial features become more distinctive with age, and adults with Mowat-Wilson syndrome have an elongated face with heavy eyebrows and a pronounced chin and jaw. Affected people tend to have a smiling, open-mouthed expression, and they typically have friendly and happy personalities.Mowat-Wilson syndrome is often associated with an unusually small head (microcephaly), structural brain abnormalities, and intellectual disability ranging from moderate to severe. Speech is absent or severely impaired, and affected people may learn to speak only a few words. Many people with this condition can understand others' speech, however, and some use sign language to communicate. If speech develops, it is delayed until mid-childhood or later. Children with Mowat-Wilson syndrome also have delayed development of motor skills such as sitting, standing, and walking.More than half of people with Mowat-Wilson syndrome are born with an intestinal disorder called Hirschsprung disease that causes severe constipation, intestinal blockage, and enlargement of the colon. Chronic constipation also occurs frequently in people with Mowat-Wilson syndrome who have not been diagnosed with Hirschsprung disease.Other features of Mowat-Wilson syndrome include short stature, seizures, heart defects, and abnormalities of the urinary tract and genitalia. Less commonly, this condition also affects the eyes, teeth, hands, and skin coloring (pigmentation). Although many different medical issues have been associated with Mowat-Wilson syndrome, not every individual with this condition has all of these features.

MalaCards based summary: Mowat-Wilson Syndrome, also known as microcephaly, mental retardation, and distinct facial features, with or without hirschsprung disease, is related to goldberg-shprintzen syndrome and hirschsprung disease 1, and has symptoms including constipation, seizures and vomiting. An important gene associated with Mowat-Wilson Syndrome is ZEB2 (Zinc Finger E-Box Binding Homeobox 2), and among its related pathways/superpathways are Neural crest differentiation and MECP2 and associated Rett syndrome. Affiliated tissues include heart, colon and brain, and related phenotypes are intellectual disability and abnormal facial shape

OMIM®: ⁵⁷ Mowat-Wilson syndrome (MOWS) is an autosomal dominant complex developmental disorder; individuals with functional null mutations present with mental retardation, delayed motor development, epilepsy, and a wide spectrum of clinically heterogeneous features suggestive of neurocristopathies at the cephalic, cardiac, and vagal levels. Mowat-Wilson syndrome has many clinical features in common with Goldberg-Shprintzen syndrome (609460) but the 2 disorders are genetically distinct (Mowat et al., 2003). Goldberg-Shprintzen syndrome is caused by mutation in the KIFBP gene (609367) on chromosome 10q. (235730) (Updated 24-Oct-2022)

GARD: ¹⁹ Mowat-Wilson syndrome (MWS) is a rare genetic disorder that affects many systems of the body. Symptoms may include intellectual disability, distinctive facial features, delayed development, and Hirschsprung disease. Other symptoms may include microcephaly, structural brain abnormalities, epilepsy, short stature, and defects of the heart, urinary tract, or genitalia. MWS is caused by a genetic change in the ZEB2 gene. It typically occurs for the first time in a person with MWS and is not inherited from a parent. Vary rarely, more than one child in a family will have MWS.

UniProtKB/Swiss-Prot: ⁷³ A complex developmental disorder characterized by intellectual disability, delayed motor development, epilepsy, microcephaly and a wide spectrum of clinically heterogeneous features suggestive of neurocristopathies at the cephalic, cardiac, and vagal levels. Affected patients show an easily recognizable facial appearance with deep set eyes and hypertelorism, medially divergent, broad eyebrows, prominent columella, pointed chin and uplifted, notched ear lobes. Some patients manifest Hirschsprung disease.

Disease Ontology: ¹¹ A syndrome characterized by distinctive facial features, intellectual disability, delayed development, Hirschsprung disease and has material basis in de novo heterozygous mutation in the ZEB2 gene on chromosome 2q22.

Orphanet: ⁵⁸ A rare multiple congenital anomaly syndrome characterized by a distinct facial phenotype, intellectual disability, epilepsy, Hirschsprung disease (HSCR) and variable congenital malformations.

Wikipedia: ⁷⁵ Mowat-Wilson syndrome is a rare genetic disorder that was clinically delineated by David R. Mowat and... more...

Clinical features from OMIM®:

Search Clinical Trials, NIH Clinical Center for Mowat-Wilson Syndrome