Elsahy-Waters Syndrome (Brachioskeletogenital Syndrome, BSGS) is a rare disorder associated with mutations in cadherin-11.
Function: regulates cell-cell adhesion, cell polarization and migration, osteogenic differentiation
Inheritance: autosomal recessive
(1) facial asymmetry
(2) broad forehead
(3) marked hypertelorism with proptosis
(4) short and broad nose
(5) midface hypoplasia (flat malar regions)
(6) intellectual disability
(8) variable prognathism
(9) variable thick eyebrows with synophrys
(10) variable eye changes (megalocornea, cataracts, glaucoma)
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