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Mowat-Wilson syndrome(MOWS)

MedGen UID:
341067
Concept ID:
C1856113
Disease or Syndrome
Synonyms: Hirschsprung disease mental retardation syndrome; Mental retardation, microcephaly, and distinct facial features with or without Hirschsprung disease; MOWS
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
 
Gene: ZEB2
Cytogenetic location: 2q22.3
OMIM: 235730

Disease characteristics

Excerpted from the GeneReview: Mowat-Wilson Syndrome
Mowat-Wilson syndrome (MWS) is characterized by the following: Distinctive facial features. Structural anomalies including: Hirschsprung disease. Genitourinary anomalies (particularly hypospadias in males). Congenital heart defects (particularly abnormalities of the pulmonary arteries and/or valves). Agenesis or hypogenesis of the corpus callosum. Eye defects (microphthalmia and Axenfeld anomaly). Functional differences including: Moderate to severe intellectual disability. Severe speech impairment with relative preservation of receptive language. Seizures. Growth retardation with microcephaly. Chronic constipation in those without Hirschsprung disease. [from GeneReviews]
Full text of GeneReview (by section):
Summary  |  Diagnosis  |  Clinical Description  |  Differential Diagnosis  |  Management  |  Genetic Counseling  |  Resources  |  Molecular Genetics  |  References  |  Chapter Notes
Authors:
Margaret P Adam  |  Jessie Conta  |  Lora JH Bean   view full author information

Additional descriptions

From OMIM
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 megacolon syndrome (609460) but the 2 disorders are genetically distinct (Mowat et al., 2003). Goldberg-Shprintzen megacolon syndrome is caused by mutation in the KIAA1279 gene (609367) located on 10q.  http://www.omim.org/entry/235730
From GHR
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 can also affect 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.  http://ghr.nlm.nih.gov/condition/mowat-wilson-syndrome

Clinical features

Cryptorchidism
MedGen UID:
504309
Concept ID:
CN000029
Finding
Absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the testis.
Hypospadias
MedGen UID:
504317
Concept ID:
CN000047
Finding
Displacement of the urethral opening on the ventral (inferior) surface of the penis.
Bifid scrotum
MedGen UID:
504318
Concept ID:
CN000048
Finding
Separation of the two halves of the scrotum, whereby commonly the 2 halves of the scrotum meet above the penis.
Abnormal localization of kidney
MedGen UID:
451874
Concept ID:
CN117435
Finding
An abnormal site of the `kidney` (FMA:7203).
Displacement of the external urethral meatus
MedGen UID:
451918
Concept ID:
CN117519
Finding
A displacement of the external urethral orifice from its normal position (in males normally placed at the tip of glans penis, in females normally placed about 2.5 cm behind the glans clitoridis and immediately in front of that of the vagina).
Submucous cleft hard palate
MedGen UID:
504380
Concept ID:
CN000171
Finding
Hard-palate submucous clefts are characterized by bony defects in the midline of the bony palate that are covered by the mucous membrane of the roof of the mouth. It may be possible to detect a submucous cleft hard palate upon palpation as a notch in the bony palate.
Cleft upper lip
MedGen UID:
504391
Concept ID:
CN000197
Finding
A gap in the `upper lip` (FMA:59817). This is a congenital defect resulting from nonfusion of tissues of the lip during embryonal development.
Everted lower lip vermilion
MedGen UID:
504402
Concept ID:
CN000224
Finding
An abnormal configuration of the `lower lip` (FMA:59818) such that it is turned outward i.e., `everted` (PATO:0001597), with the Inner aspect of the lower lip vermilion (normally opposing the teeth) being visible in a frontal view.
Hypertelorism
MedGen UID:
504419
Concept ID:
CN000296
Finding
Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes).
Wide nasal bridge
MedGen UID:
504442
Concept ID:
CN000404
Finding
Increased breadth of the nasal bridge (and with it, the nasal root).
Deeply set eye
MedGen UID:
504464
Concept ID:
CN000458
Finding
An `eye` (FMA:54448) that is more deeply recessed into the plane of the face than is typical.
Abnormality of the eyebrow
MedGen UID:
446365
Concept ID:
CN000500
Finding
An abnormality of the `eyebrow` (FMA:54237).
Frontal bossing
MedGen UID:
505049
Concept ID:
CN001816
Finding
Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.
Drooling
MedGen UID:
505191
Concept ID:
CN002095
Finding
Habitual flow of saliva out of the mouth.
Broad columella
MedGen UID:
430058
Concept ID:
CN009587
Finding
Increased width of the columella.
Strabismus
MedGen UID:
21337
Concept ID:
C0038379
Disease or Syndrome
Misalignment of the visual axes of the eyes. In comitant strabismus the degree of ocular misalignment does not vary with the direction of gaze. In noncomitant strabismus the degree of misalignment varies depending on direction of gaze or which eye is fixating on the target. (Miller, Walsh & Hoyt's Clinical Neuro-Ophthalmology, 4th ed, p641)
Hypertelorism
MedGen UID:
504419
Concept ID:
CN000296
Finding
Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes).
Deeply set eye
MedGen UID:
504464
Concept ID:
CN000458
Finding
An `eye` (FMA:54448) that is more deeply recessed into the plane of the face than is typical.
Ptosis
MedGen UID:
504471
Concept ID:
CN000475
Finding
The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).
Esotropia
MedGen UID:
504499
Concept ID:
CN000530
Finding
A form of strabismus with one or both eyes turned inward ('crossed').
Iris coloboma
MedGen UID:
504523
Concept ID:
CN000574
Finding
A `coloboma` (HP:0000589) of the `iris` (FMA:58235).
Cupped ear
MedGen UID:
504426
Concept ID:
CN000353
Finding
Laterally protruding ear that lacks antihelical folding (including absence of inferior and superior crura).
External ear malformation
MedGen UID:
506236
Concept ID:
CN007542
Finding
A malformation of the `auricle of the ear` (FMA:56580).
Large earlobe
MedGen UID:
506310
Concept ID:
CN008608
Finding
Increased volume of the earlobe, that is, abnormally prominent `ear lobules` (FMA:60984).
Uplifted earlobe
MedGen UID:
506336
Concept ID:
CN008747
Finding
An abnormal orientation of the earlobes such that they point out- and upward. That is, the lateral surface of ear lobe faces superiorly.
Motor delay
MedGen UID:
504779
Concept ID:
CN001164
Finding
A type of `Developmental delay` (HP:0001263) characterized by a delay in acquiring motor skills.
Ventriculomegaly
MedGen UID:
505112
Concept ID:
CN001919
Finding
An increase in size of the ventricular system of the brain.
Cerebral cortical atrophy
MedGen UID:
505113
Concept ID:
CN001920
Finding
Atrophy of the cortex of the cerebrum.
Aganglionic megacolon
MedGen UID:
505171
Concept ID:
CN002042
Finding
An abnormality resulting from a lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) that results in bowel obstruction with enlargement of the colon.
Drooling
MedGen UID:
505191
Concept ID:
CN002095
Finding
Habitual flow of saliva out of the mouth.
Intellectual disability, moderate
MedGen UID:
505205
Concept ID:
CN002126
Finding
Moderate mental retardation is defined as an intelligence quotient (IQ) in the range of 35-49.
Aplasia/Hypoplasia of the corpus callosum
MedGen UID:
425895
Concept ID:
CN006451
Finding
Absence or underdevelopment of the `corpus callosum` (FMA:86464).
Supernumerary nipples
MedGen UID:
505270
Concept ID:
CN002323
Finding
Presence of more than two nipples.
Pectus excavatum
MedGen UID:
504591
Concept ID:
CN000721
Finding
A defect of the chest wall characterized by a depression of the sternum, giving the chest (\
Pectus carinatum
MedGen UID:
504592
Concept ID:
CN000722
Finding
A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum.
Abnormality of the rib cage
MedGen UID:
428272
Concept ID:
CN001412
Finding
A morphological anomaly of the `rib cage` (FMA:7480).
Preaxial foot polydactyly
MedGen UID:
504971
Concept ID:
CN001666
Finding
Duplication of all or part of the first ray.
Frontal bossing
MedGen UID:
505049
Concept ID:
CN001816
Finding
Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.
Camptodactyly of finger
MedGen UID:
451844
Concept ID:
CN117383
Finding
The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers cannot be extended to 180 degrees by either active or passive extension.
Abdominal distention
MedGen UID:
34
Concept ID:
C0000731
Finding
Swelling of the abdomen resulting from excessive food intake, malnutrition, liver disease, primary abdominal tumors, and tumors metastatic to the abdominal cavity.
Aganglionic megacolon
MedGen UID:
505171
Concept ID:
CN002042
Finding
An abnormality resulting from a lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) that results in bowel obstruction with enlargement of the colon.
Abnormality of the abdominal wall
MedGen UID:
425246
Concept ID:
CN003801
Finding
The presence of any abnormality affecting the `abdominal wall` (FMA:259054).
Abnormality of the eyebrow
MedGen UID:
446365
Concept ID:
CN000500
Finding
An abnormality of the `eyebrow` (FMA:54237).
Defect in the atrial septum
MedGen UID:
504879
Concept ID:
CN001485
Finding
Atrial septal defect (ASD) is a congenital abnormality of the `interatrial septum` (FMA:7108) that enables blood flow between the left and right atria via the interatrial septum.
Tetralogy of Fallot
MedGen UID:
504882
Concept ID:
CN001489
Finding
A congenital cardiac malformation comprising pulmonary stenosis, overriding aorta, ventricular septum defect, and right ventricular hypertrophy. The diagnosis of TOF is made if at least three of the four above mentioned features are present.
Pulmonic stenosis
MedGen UID:
504885
Concept ID:
CN001495
Finding
A narrowing of the right ventricular outflow tract that can occur at the pulmonary valve (valvular stenosis) or just below the pulmonary valve (infundibular stenosis).
Patent ductus arteriosus
MedGen UID:
504886
Concept ID:
CN001496
Finding
In utero, the ductus arteriosus (DA) serves to divert ventricular output away from the lungs and toward the placenta by connecting the main pulmonary artery to the descending aorta. A patent ductus arteriosus (PDA) in the first 3 days of life is a physiologic shunt in healthy term and preterm newborn infants, and normally is substantially closed within about 24 hours after bith and completely closed after about three weeks. Failure of physiologcal closure is referred to a persistent or patent ductus arteriosus (PDA). Depending on the degree of left-to-right shunting, PDA can have clinical consequences.
Pulmonary artery stenosis
MedGen UID:
505629
Concept ID:
CN003910
Finding
An abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches.
Muscular hypotonia
MedGen UID:
504768
Concept ID:
CN001147
Finding
Muscular hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle), often involving reduced muscle strength. Hypotonia is characterized by a diminished resistance to passive stretching.
Camptodactyly of finger
MedGen UID:
451844
Concept ID:
CN117383
Finding
The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers cannot be extended to 180 degrees by either active or passive extension.
Camptodactyly of finger
MedGen UID:
451844
Concept ID:
CN117383
Finding
The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers cannot be extended to 180 degrees by either active or passive extension.

Term Hierarchy

Professional guidelines

PubMed

Zollino M, Garavelli L, Rauch A
Eur J Hum Genet 2011 Aug;19(8) Epub 2011 Feb 23 doi: 10.1038/ejhg.2011.12. [Epub ahead of print] PMID: 21343952Free PMC Article

Recent clinical studies

Etiology

Forrest MP, Waite AJ, Martin-Rendon E, Blake DJ
PLoS One 2013;8(8):e73169. Epub 2013 Aug 23 doi: 10.1371/journal.pone.0073169. PMID: 24058414Free PMC Article
Cordelli DM, Garavelli L, Savasta S, Guerra A, Pellicciari A, Giordano L, Bonetti S, Cecconi I, Wischmeijer A, Seri M, Rosato S, Gelmini C, Della Giustina E, Ferrari AR, Zanotta N, Epifanio R, Grioni D, Malbora B, Mammi I, Mari F, Buoni S, Mostardini R, Grosso S, Pantaleoni C, Doz M, Poch-Olivé ML, Rivieri F, Sorge G, Simonte G, Licata F, Tarani L, Terazzi E, Mazzanti L, Cerruti Mainardi P, Boni A, Faravelli F, Grasso M, Bianchi P, Zollino M, Franzoni E
Am J Med Genet A 2013 Feb;161A(2):273-84. Epub 2013 Jan 15 doi: 10.1002/ajmg.a.35717. [Epub ahead of print] PMID: 23322667
Saunders CJ, Zhao W, Ardinger HH
Am J Med Genet A 2009 Nov;149A(11):2527-31. doi: 10.1002/ajmg.a.33067. PMID: 19842203
Bonnard A, Zeidan S, Degas V, Viala J, Baumann C, Berrebi D, Perrusson O, El Ghoneimi A
J Pediatr Surg 2009 Mar;44(3):587-91. doi: 10.1016/j.jpedsurg.2008.10.066. PMID: 19302864
Cecconi M, Forzano F, Garavelli L, Pantaleoni C, Grasso M, Dagna Bricarelli F, Perroni L, Di Maria E, Faravelli F
Am J Med Genet A 2008 Dec 1;146A(23):3095-9. doi: 10.1002/ajmg.a.32568. PMID: 19006215

Diagnosis

Park JY, Cho EH, Lee EH, Kang YS, Jun KR, Hur YJ
Gene 2013 Dec 15;532(2):307-9. Epub 2013 Sep 9 doi: 10.1016/j.gene.2013.07.067. [Epub ahead of print] PMID: 24029077
Kiraz A, Aldemir O, Karabulut Y, Turan C, Dundar M
Genet Couns 2013;24(1):61-8. PMID: 23610866
Spaggiari E, Baumann C, Alison M, Oury JF, Belarbi N, Dupont C, Guimiot F, Delezoide AL
Eur J Med Genet 2013 Jun;56(6):297-300. Epub 2013 Mar 21 doi: 10.1016/j.ejmg.2013.03.003. [Epub ahead of print] PMID: 23523603
Meral C, Malbora B, Celikel F, Aydemir G, Süleymanoğlu S, Zollino M, Derbent M
Turk J Pediatr 2012 Sep-Oct;54(5):523-7. PMID: 23427518
Ariss M, Natan K, Friedman N, Traboulsi EI
Ophthalmic Genet 2012 Sep;33(3):159-60. Epub 2012 Apr 9 doi: 10.3109/13816810.2011.610860. [Epub ahead of print] PMID: 22486326

Therapy

Cordelli DM, Garavelli L, Savasta S, Guerra A, Pellicciari A, Giordano L, Bonetti S, Cecconi I, Wischmeijer A, Seri M, Rosato S, Gelmini C, Della Giustina E, Ferrari AR, Zanotta N, Epifanio R, Grioni D, Malbora B, Mammi I, Mari F, Buoni S, Mostardini R, Grosso S, Pantaleoni C, Doz M, Poch-Olivé ML, Rivieri F, Sorge G, Simonte G, Licata F, Tarani L, Terazzi E, Mazzanti L, Cerruti Mainardi P, Boni A, Faravelli F, Grasso M, Bianchi P, Zollino M, Franzoni E
Am J Med Genet A 2013 Feb;161A(2):273-84. Epub 2013 Jan 15 doi: 10.1002/ajmg.a.35717. [Epub ahead of print] PMID: 23322667

Prognosis

Cordelli DM, Garavelli L, Savasta S, Guerra A, Pellicciari A, Giordano L, Bonetti S, Cecconi I, Wischmeijer A, Seri M, Rosato S, Gelmini C, Della Giustina E, Ferrari AR, Zanotta N, Epifanio R, Grioni D, Malbora B, Mammi I, Mari F, Buoni S, Mostardini R, Grosso S, Pantaleoni C, Doz M, Poch-Olivé ML, Rivieri F, Sorge G, Simonte G, Licata F, Tarani L, Terazzi E, Mazzanti L, Cerruti Mainardi P, Boni A, Faravelli F, Grasso M, Bianchi P, Zollino M, Franzoni E
Am J Med Genet A 2013 Feb;161A(2):273-84. Epub 2013 Jan 15 doi: 10.1002/ajmg.a.35717. [Epub ahead of print] PMID: 23322667
Smigiel R, Szafranska A, Czyzewska M, Rauch A, Zweier Ch, Patkowski D
J Appl Genet 2010;51(1):111-3. PMID: 20145308
Bonnard A, Zeidan S, Degas V, Viala J, Baumann C, Berrebi D, Perrusson O, El Ghoneimi A
J Pediatr Surg 2009 Mar;44(3):587-91. doi: 10.1016/j.jpedsurg.2008.10.066. PMID: 19302864
Ohtsuka M, Oguni H, Ito Y, Nakayama T, Matsuo M, Osawa M, Saito K, Yamada Y, Wakamatsu N
J Child Neurol 2008 Mar;23(3):274-8. Epub 2008 Jan 29 doi: 10.1177/0883073807309231. [Epub ahead of print] PMID: 18230842
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, Gallagher RC, 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
Eur J Med Genet 2005 Apr-Jun;48(2):97-111. Epub 2005 Feb 25 doi: 10.1016/j.ejmg.2005.01.003. [Epub ahead of print] PMID: 16053902

Clinical prediction guides

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 Jul 1;22(13):2652-61. Epub 2013 Mar 5 doi: 10.1093/hmg/ddt114. [Epub ahead of print] PMID: 23466526
Stanchina L, Van de Putte T, Goossens M, Huylebroeck D, Bondurand N
Dev Biol 2010 May 15;341(2):416-28. Epub 2010 Mar 4 doi: 10.1016/j.ydbio.2010.02.036. [Epub ahead of print] PMID: 20206619
Ohtsuka M, Oguni H, Ito Y, Nakayama T, Matsuo M, Osawa M, Saito K, Yamada Y, Wakamatsu N
J Child Neurol 2008 Mar;23(3):274-8. Epub 2008 Jan 29 doi: 10.1177/0883073807309231. [Epub ahead of print] PMID: 18230842
Garavelli L, Mainardi PC
Orphanet J Rare Dis 2007 Oct 24;2:42. doi: 10.1186/1750-1172-2-42. [Epub ahead of print] PMID: 17958891Free PMC Article
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, Gallagher RC, 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
Eur J Med Genet 2005 Apr-Jun;48(2):97-111. Epub 2005 Feb 25 doi: 10.1016/j.ejmg.2005.01.003. [Epub ahead of print] PMID: 16053902

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