Elsahy-Waters syndrome

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: BSG syndrome, ELSAHY-Waters syndrome, ESWS, Elsahy-Waters syndrome, brachioskeletogenital syndrome, hypospadias, hypertelorism, upper 51D coloboma, and mixed-type hearing loss, hypospadias, hypertelorism, upper lid coloboma, and mixed-type hearing loss, hypospadias-hypertelorism-coloboma and deafness syndrome

0 clinical trials for this condition and its sub-types, 0 tagged with Elsahy-Waters syndrome itself.