Elsahy-Waters Syndrome (Brachioskeletogenital Syndrome, BSGS) is a rare disorder associated with mutations in cadherin-11.
Chromosome: 16q21
Gene: CDH11
Product: cadherin-11
Function: regulates cell-cell adhesion, cell polarization and migration, osteogenic differentiation
Inheritance: autosomal recessive
Clinical features:
(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
(7) hypospadias
(8) variable prognathism
(9) variable thick eyebrows with synophrys
(10) variable eye changes (megalocornea, cataracts, glaucoma)
