Mowat-Wilson syndrome (MWS) is a rare genetic disorder characterized by distinctive facial features, congenital abnormalities, and developmental delays.
Key Characteristics of Mowat-Wilson Syndrome:
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Distinctive Facial Features: Individuals with MWS often have widely spaced eyes (hypertelorism), broad eyebrows with a medial flare, a prominent or pointed chin, a low-hanging columella (the fleshy part between the nostrils), an open-mouth expression, and uplifted earlobes with a central depression.
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Congenital Heart Defects: Heart defects are common in individuals with MWS, particularly abnormalities of the pulmonary arteries.
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Hirschsprung's Disease: This condition, affecting the large intestine, is frequently associated with MWS.
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Developmental Delay: Significant developmental delays are typical, impacting motor skills, speech, and cognitive abilities.
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Intellectual Disability: Individuals with MWS usually have moderate to severe intellectual disability.
Genetic Basis:
MWS is caused by mutations or deletions in the ZEB2 gene. This gene plays a critical role in development.
Diagnosis:
Diagnosis is based on clinical features and confirmed by genetic testing to identify mutations in the ZEB2 gene.
Management:
Management of MWS involves addressing the various associated health concerns, including heart defects, Hirschsprung's disease, and developmental delays. This often requires a multidisciplinary approach involving specialists in cardiology, gastroenterology, genetics, and developmental pediatrics. Early intervention therapies, such as speech therapy, occupational therapy, and physical therapy, are crucial for maximizing developmental potential.
