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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

81 tests are in the database for this condition.

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Clinical tests (80 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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