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)

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