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Disease Profile

Mowat-Wilson syndrome

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

Antenatal

ICD-10

Q43.1

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Intellectual disability, microcephaly, and distinct facial features with or without Hirschsprung disease; Hirschsprung disease intellectual disability syndrome

Categories

Congenital and Genetic Diseases

Summary

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, epilepsyshort 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]

Symptoms

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.

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
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small 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
Cross-eyed
Squint
Squint eyes

[ 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
Abnormal eye structure
Abnormally shaped eye

[ more ]

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

Cause

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]

Diagnosis

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.

    Organizations

    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

      Organizations Providing General Support

        Learn more

        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

        • MedlinePlus Genetics 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.

            References

            1. Mowat-Wilson syndrome. Genetics Home Reference (GHR). June, 2015; https://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; https://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; https://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):https://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.

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