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Elsahy-Waters syndrome

^ http://purl.obolibrary.org/obo/MONDO_0008885

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. [ Orphanet:1299 ]

Term info

database cross reference
  • UMLS:C1863870 (OMIM:603463)
  • Orphanet:157788 (OMIM:603463)
  • GARD:0000955 (MONDO:equivalentTo)
  • SCTID:719097002 (MONDO:equivalentTo)
  • Orphanet:1299 (OMIM:211380)
  • OMIM:603463 (MONDO:equivalentObsolete)
  • DOID:0080631 (MONDO:equivalentTo)
  • OMIM:211380 (Orphanet:1299/e)
  • MESH:C537084 (MONDO:equivalentTo)
  • MESH:C566373 (MONDO:equivalentTo)
Subsets

ordo_malformation_syndrome

abbreviation
ESWS [ OMIM:211380 ]

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/5588

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.

exactMatch

http://identifiers.org/mesh/C566373, http://identifiers.org/mesh/C537084, http://identifiers.org/snomedct/719097002, http://purl.obolibrary.org/obo/Orphanet_1299, http://purl.obolibrary.org/obo/DOID_0080631, https://omim.org/entry/211380, http://purl.obolibrary.org/obo/Orphanet_157788, http://linkedlifedata.com/resource/umls/id/C1863870

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0000508

has exact synonym

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

has related synonym

branchio-skeleto-genital syndrome

id

MONDO:0008885