A patient with Mowat-Wilson Syndrome (MWS) may present with certain phenotypic features.


Chromosome: 2q22-q24.1


Gene affected: ZFHX1B (zinc finger homeo box 1B)


Clinical features:

(1) mental retardation

(2) short stature

(3) microcephaly

(4) facial features

(4a) hypertelorism

(4b) pointed chin

(4c) prominent columella

(4d) prominent eyebrows with medial flaring

(4e) uplifted earlobes

(4f) open mouthed expression

(5) variable Hirschsprung's disease

(6) variable seizures

(7) variable hypoplasia or agenesis of the corpus callosum (seen on head imaging studies)

(8) variable urogenital or renal anomalies

(9) variable congenital heart disease


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