Mowat-Wilson Syndrome (MOWS)

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Disease Ontology 12 DOID:0060485 OMIM 56 235730 KEGG 36 H00908 MeSH 43 C536990 D006627 D008607 D008831 more NCIt 49 C74999 SNOMED-CT 67 703535000 MESH via Orphanet 44 C536990

ICD10 via Orphanet 33 Q43.1 UMLS via Orphanet 72 C1856113 Orphanet 58 ORPHA2152 ORPHA261537 ORPHA261552 MedGen 41 C1856113 SNOMED-CT via HPO 68 11934000 122480009 128306009 128602000 128613002 13213009 14760008 16507009 16596007 193523008 193570009 194021007 197811007 202281000 204043002 204108000 204739008 204878001 204888000 205101001 22006008 22066006 225595004 236780002 237836003 246545002 246800008 246923005 247053007 247546006 249321001 249497008 249768009 249769001 253251006 253366007 253549006 26098002 262016004 263681008 268251006 271611007 27272007 275295002 278849000 300359004 30288003 313307000 33995003 34048007 367403001 367495003 391987005 392461003 39302008 398151007 398152000 405752007 40700009 415692008 41931001 422400008 43064006 43437003 44513007 50956007 5102002 53827007 563001 5639000 56786000 60728008 61142002 62718007 63567004 70142008 80093006 80281008 83330001 84757009 86299006 87979003 90145001 90708001 91175000 95441000 more UMLS 71 C1856113

Genetics Home Reference : ²⁵ 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 hirschsprung disease-mental retardation syndrome, is related to hirschsprung disease 1 and alacrima, achalasia, and mental retardation syndrome, and has symptoms including seizures, vomiting and constipation. An important gene associated with Mowat-Wilson Syndrome is ZEB2 (Zinc Finger E-Box Binding Homeobox 2). Affiliated tissues include eye, heart and brain, and related phenotypes are microcephaly and frontal bossing

Disease Ontology : ¹² 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.

NIH Rare Diseases : ⁵² Mowat-Wilson syndrome (MWS) is a rare genetic disorder that affects many systems of the body. Some of the main features include intellectual disability , distinctive facial features, delayed development, and Hirschsprung disease . Other features may include microcephaly , structural brain abnormalities, epilepsy , short stature , and defects of the heart, urinary tract, or genitalia. MWS is caused by a mutation 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. Treatment depends on the symptoms present and focuses on the specific needs of each person.

OMIM : ⁵⁶ Mowat-Wilson syndrome 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 KIAA1279 gene (609367) located on 10q. (235730)

KEGG : ³⁶ Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized by a distinct facial phenotype, intellectual deficiency, epilepsy and variable congenital malformations including Hirschsprung disease, genitourinary anomalies, congenital heart defects, agenesis of the corpus callosum and eye anomalies. MWS is caused by heterozygous mutations or deletions of the ZEB2/ZFHX1B gene.

UniProtKB/Swiss-Prot : ⁷³ Mowat-Wilson syndrome: A complex developmental disorder characterized by mental retardation, 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.

Wikipedia : ⁷⁴ Mowat-Wilson syndrome is a rare genetic disorder that was clinically delineated by Dr. David R. Mowat... more...

GeneReviews: NBK1412

Clinical features from OMIM:

235730

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

Search GEO for disease gene expression data for Mowat-Wilson Syndrome.