Elsahy-Waters syndrome
Elsahy-Waters syndrome
Definition
An extremely rare multiple congenital anomalies/dysmorphic syndrome, described in three boys from one family, and characterized by intellectual disability, hypertelorism, broad and flat nasal bridge, maxillary hypoplasia, mandibular prognathism, bifid uvula or partial cleft palate, multiple dental cysts, Schmorl nodes, fused cervical spinous processes, pectus excavatum, and penoscrotal hypospadias. There have been no further descriptions in the literature since 1971.
Also known as brachioskeletogenital syndrome, BSG syndrome, ELSAHY-Waters syndrome, ESWS, hypospadias-hypertelorism-coloboma and deafness syndrome, hypospadias, hypertelorism, upper 51D coloboma, and mixed-type hearing loss, hypospadias, hypertelorism, upper lid coloboma, and mixed-type hearing loss — per MONDO