National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Mowat-Wilson syndrome


Other Names:
Intellectual disability, microcephaly, and distinct facial features with or without Hirschsprung disease; Hirschsprung disease intellectual disability syndrome
Categories:
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.[1][2] 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.[3] Treatment depends on the symptoms present and focuses on the specific needs of each person.[3]
Last updated: 7/10/2017

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Showing of 89 |
Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Abnormal eyebrow morphology
Abnormality of the eyebrow
0000534
Deeply set eye
Deep set eye
Deep-set eyes
Sunken eye
[ more ] 		0000490
External ear malformation 0008572
Frontal bossing 0002007
High forehead 0000348
Large earlobe
Fleshy earlobe
Fleshy earlobes
Prominent ear lobes
prominent ear lobules
[ more ] 		0009748
Microcephaly
Abnormally small skull
Small head circumference
Decreased size of skull
Decreased circumference of cranium
Reduced head circumference
[ more ] 		0000252
Uplifted earlobe
Lobe, uplifted
Upturned earlobe
[ more ] 		0009909
30%-79% of people have these symptoms
Aganglionic megacolon
Enlarged colon lacking nerve cells
0002251
Aplasia/Hypoplasia of the corpus callosum 0007370
Broad columella 0010761
Cryptorchidism
Undescended testes
Undescended testis
[ more ] 		0000028
Epicanthus
Eye folds
Prominent eye folds
[ more ] 		0000286
Everted lower lip vermilion
Drooping lower lip
Outward turned lower lip
[ more ] 		0000232
Fine hair
Fine hair shaft
Fine hair texture
Thin hair shaft
Thin hair texture
[ more ] 		0002213
High palate
Elevated palate
Increased palatal height
[ more ] 		0000218
Hypertelorism
Wide-set eyes
Widely spaced eyes
[ more ] 		0000316
Hypospadias 0000047
Muscular hypotonia
Low or weak muscle tone
0001252
Open mouth
Gaped jawed appearance
Gaped mouthed appearance
Slack jawed appearance
[ more ] 		0000194
Posteriorly rotated ears
Ears rotated toward back of head
0000358
Seizure 0001250
Short stature
Decreased body height
Small stature
[ more ] 		0004322
Tapered finger
Tapered fingertips
Tapering fingers
[ more ] 		0001182
5%-29% of people have these symptoms
Aplasia/Hypoplasia of the cerebellum
Absent/small cerebellum
Absent/underdeveloped cerebellum
[ more ] 		0007360
Bifid scrotum
Cleft of scrotum
0000048
Broad hallux phalanx
Broad bone of big toe
Wide bone of big toe
[ more ] 		0010059
Camptodactyly of finger
Permanent flexion of the finger
0100490
Cerebral cortical atrophy
Decrease in size of the outer layer of the brain due to loss of brain cells
0002120
Cleft palate
Cleft roof of mouth
0000175
Cleft upper lip
Harelip
0000204
Constipation 0002019
Deep plantar creases
Deep wrinkles in soles of feet
0001869
Ectopic kidney
Abnormal kidney location
Displaced kidney
[ more ] 		0000086
Finger syndactyly 0006101
Hallux valgus
Bunion
0001822
Hydronephrosis 0000126
Iris coloboma
Cat eye
0000612
Microphthalmia
Abnormally small eyeball
0000568
Nystagmus
Involuntary, rapid, rhythmic eye movements
0000639
Patent ductus arteriosus 0001643
Pointed chin
Pointy chin
Small pointed chin
Witch's chin
[ more ] 		0000307
Strabismus
Squint eyes
Squint
Cross-eyed
[ more ] 		0000486
Supernumerary nipple
Accessory nipple
0002558
Tetralogy of Fallot 0001636
Ventricular septal defect
Hole in heart wall separating two lower heart chambers
0001629
Ventriculomegaly 0002119
Vesicoureteral reflux 0000076
Wide nasal bridge
Broad nasal bridge
Broad nasal root
Broadened nasal bridge
Increased breadth of bridge of nose
Increased breadth of nasal bridge
Increased width of bridge of nose
Increased width of nasal bridge
Nasal bridge broad
Wide bridge of nose
Widened nasal bridge
[ more ] 		0000431
1%-4% of people have these symptoms
Abnormal eye morphology
Abnormally shaped eye
0012372
Abnormal heart morphology
Abnormality of the heart
Abnormally shaped heart
Heart defect
[ more ] 		0001627
Abnormal morphology of the hippocampus 0025100
Abnormality of the kidney
Abnormal kidney
0000077
Absent speech
Absent speech development
Lack of language development
Lack of speech
No speech development
No speech or language development
Nonverbal
[ more ] 		0001344
Agenesis of corpus callosum 0001274
Aplasia/Hypoplasia of the cerebral white matter
Absent/small cerebral white matter
Absent/underdeveloped cerebral white matter
[ more ] 		0012429
Delayed eruption of teeth
Delayed eruption
Delayed teeth eruption
Delayed tooth eruption
Eruption, delayed
Late eruption of teeth
Late tooth eruption
[ more ] 		0000684
Generalized hypotonia
Decreased muscle tone
Low muscle tone
[ more ] 		0001290
Intellectual disability, severe
Early and severe mental retardation
Mental retardation, severe
Severe mental retardation
[ more ] 		0010864
Large basal ganglia 0007048
Low hanging columella 0009765
Pulmonary artery sling 0004961
Pyloric stenosis 0002021
Recurrent otitis media
Recurrent middle ear infection
0000403
Percent of people who have these symptoms is not available through HPO
Abdominal distention
Abdominal bloating
Abdominal swelling
Belly bloating
Bloating
[ more ] 		0003270
Atrial septal defect
An opening in the wall separating the top two chambers of the heart
Hole in heart wall separating two upper heart chambers
[ more ] 		0001631
Autosomal dominant inheritance 0000006
Broad eyebrow
Broad eyebrows
Flared eyebrow
Increased vertical height of eyebrow
Increased vertical thickness of eyebrow
[ more ] 		0011229
Cataract
Clouding of the lens of the eye
Cloudy lens
[ more ] 		0000518
Chorioretinal coloboma
Birth defect that causes a hole in the innermost layer at the back of the eye
0000567
Cupped ear
Cup-shaped ears
Simple, cup-shaped ears
[ more ] 		0000378
Downslanted palpebral fissures
Downward slanting of the opening between the eyelids
0000494
Drooling
Dribbling
0002307
Ectopia pupillae
Displaced pupil
0009918
Esotropia
Inward turning cross eyed
0000565
Generalized muscle hypertrophy
Generalized increase in muscle cell size
0003720
Happy demeanor 0040082
Hypoplasia of the corpus callosum
Underdevelopment of part of brain called corpus callosum
0002079
Microcornea
Cornea of eye less than 10mm in diameter
0000482
Motor delay 0001270
Pectus carinatum
Pigeon chest
0000768
Pectus excavatum
Funnel chest
0000767
Prominent nasal tip
Large nasal tip
Large tip of nose
Prominent tip of nose
Pronounced nasal tip
Pronounced tip of nose
[ more ] 		0005274
Ptosis
Drooping upper eyelid
0000508
Pulmonary artery stenosis
Narrowing of lung artery
0004415
Pulmonic stenosis
Narrowing of pulmonic valve
0001642
Submucous cleft hard palate 0000176
Vomiting
Throwing up
0002013
Widely spaced teeth
Wide-spaced teeth
Widely-spaced teeth
[ more ] 		0000687
Showing of 89 |
Last updated: 7/1/2020
Mowat-Wilson syndrome is caused by a mutation in the ZEB2 (also known as ZFHX1B or SIP-1) gene. This gene provides instructions for making a protein needed for proper formation of many organs and tissues before birth. The protein attaches (binds) to specific regions of DNA and helps control the activity of particular genes. Researchers believe that the ZEB2 protein is involved in the development of tissues that give rise to the nervous system, digestive tract, facial features, heart, and other organs.[1]

Mowat-Wilson syndrome almost always results from the loss of one working copy of the ZEB2 gene in each cell. In some cases, the entire gene is deleted. In other cases, mutations within the gene lead to the production of an abnormally short, nonfunctional version of the ZEB2 protein. A shortage of this protein disrupts the normal development of many organs and tissues, which causes the features of Mowat-Wilson syndrome.[1]
Last updated: 7/10/2017
Mowat-Wilson syndrome (MWS) is technically considered an autosomal dominant disorder, which means that one mutated copy of the gene in each cell is sufficient to cause the disorder. However, it typically is not inherited from a parent, resulting from a new (de novo) mutation in the gene. The new mutation occurs during the formation of reproductive cells (eggs or sperm) or in early embryonic development.[1]

In very rare cases, more than one child in a family has MWS. The chance of recurrence for parents who have a child with MWS is approximately 2% or less. A person could have more than one child with MWS if one parent has a proportion of egg or sperm cells with a mutation that causes MWS. This is called germline mosaicism.[3]
Last updated: 7/10/2017

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
There is little information available about the long-term outlook for people with Mowat-Wilson syndrome. Quality of life and life expectancy depend on the presence and severity of birth defects.[4] Therefore, the outlook for each person is different. There have been reports of death in early childhood, as well as reports of people living into adulthood (although requiring assistance with the activities of daily living).[4][5] The number of adults known to have a diagnosis of Mowat-Wilson syndrome is increasing as better knowledge of the range of severity emerges (i.e. some people may be more mildly affected), and there is increased detection of the syndrome with genetic testing.[6]
Last updated: 11/19/2018

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
Differential diagnoses include Pitt-Hopkins, Goldberg-Shprintzen megacolon, Smith-Lemli-Opitz and Angelman syndromes (see these terms).
Visit the Orphanet disease page for more information.

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Patient Registry

  • The Mowat-Wilson Syndrome Foundation's Patient Registry is for patients to share valuable information that will help researchers better understand and treat Mowat-Wilson syndrome.
  • A registry supports research by collecting of information about patients that share something in common, such as being diagnosed with Mowat-Wilson syndrome. The type of data collected can vary from registry to registry and is based on the goals and purpose of that registry. Some registries collect contact information while others collect more detailed medical information. Learn more about registries.

    Registries for Mowat-Wilson syndrome:
    Mowat-Wilson Syndrome (MWS) Patient Registry
     

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • Genetics Home Reference (GHR) contains information on Mowat-Wilson syndrome. This website is maintained by the National Library of Medicine.
  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In-Depth Information

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
    Orphanet
    Orphanet
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Mowat-Wilson syndrome. Click on the link to view a sample search on this topic.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

  1. Mowat-Wilson syndrome. Genetics Home Reference (GHR). June, 2015; http://ghr.nlm.nih.gov/condition/mowat-wilson-syndrome.
  2. What is Mowat-Wilson syndrome?. Mowat-Wilson Syndrome Foundation. https://mowat-wilson.org/living-with-mws/mws-genetics/. Accessed 7/10/2017.
  3. Mowat-Wilson Syndrome. NORD. 2017; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1148/viewAbstract.
  4. Mainardi PC, Garavelli L, Lyon-Caen O. Mowat-Wilson syndrome. Orphanet. November, 2014; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2152.
  5. Garavelli L and Mainardi PC. Mowat-Wilson syndrome. Orphanet Journal of Rare Diseases. 2007; 2(42):http://www.ojrd.com/content/2/1/42.
  6. Ivanovski I, Djuric O, Caraffi SG. Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care. Genet Med. September, 2018; 20(9):965-975. https://www.ncbi.nlm.nih.gov/pubmed/29300384.