Mowat-Wilson syndrome (MWS) [OMIM # 235730] is characterized by distinctive facial features, which in young children include hypertelorism, medially flared and broad eyebrows, prominent or pointed chin, uplifted earlobes and an opened mouth expression. In older children the eyebrows become heavier, the chin and nasal tip become more prominent and the face elongates. Individuals with MWS also present with moderate-to-severe mental retardation, seizures and microcephaly. Congenital anomalies are also common, including Hirschsprung disease, genitourinary anomalies, congenital heart defects, agenesis of the corpus callosum and eye anomalies.
Sequencing of ZEB2 detects mutations in approximately 80% of individuals with a clinical diagnosis of MWS. An additional 17% of ZEB2 mutations are large or intermediate-sized deletions that would not be detected by sequencing.
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