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GTR Home > Conditions/Phenotypes > Mowat-Wilson syndrome

Mowat-Wilson syndrome

Synonyms
Hirschsprung disease mental retardation syndrome; Mental retardation, microcephaly, and distinct facial features with or without Hirschsprung disease
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

Excerpted from the GeneReview: Mowat-Wilson Syndrome
Mowat-Wilson syndrome (MWS) is characterized by distinctive facial features (widely spaced eyes, broad eyebrows with a medial flare, low-hanging columella, prominent or pointed chin, open-mouth expression, and uplifted earlobes with a central depression), congenital heart defects with predilection for abnormalities of the pulmonary arteries and/or valves, Hirschsprung disease or chronic constipation, genitourinary anomalies (particularly hypospadias in males), and hypogenesis or agenesis of the corpus callosum. Most affected individuals have moderate-to-severe intellectual disability. Speech is typically limited to a few words or is absent, with relative preservation of receptive language skills. Growth restriction with microcephaly and seizure disorder are also common. Most affected people have a happy demeanor and a wide-based gait that can sometimes be confused with Angelman syndrome.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Margaret P Adam
Jessie Conta
Lora JH Bean
view full author information

Available tests

86 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (85 available)

Molecular Genetics Tests

Research tests

Genes See tests for all associated and related genes

  • Also known as: HSPC082, SIP-1, SIP1, SMADIP1, ZFHX1B, ZEB2
    Summary: zinc finger E-box binding homeobox 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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