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.
MONDO:0000508
syndromic intellectual disability
excluded_subClassOf
MONDO:0002254
syndromic disease
is_a
MONDO:0003847
hereditary disease
is_a
MONDO:0015159
multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a
BSG syndrome
exact
ELSAHY-Waters syndrome
exact
ESWS
exact
Elsahy-Waters syndrome
exact
brachioskeletogenital syndrome
exact
branchio-skeleto-genital syndrome
related
hypospadias, hypertelorism, upper 51D coloboma, and mixed-type hearing loss
exact
hypospadias, hypertelorism, upper lid coloboma, and mixed-type hearing loss
exact
hypospadias-hypertelorism-coloboma and deafness syndrome
exact