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craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome

^ http://purl.obolibrary.org/obo/MONDO_0007401

Craniosynostosis, Dandy-Walker malformation and hydrocephalus is a malformation disorder characterized by sagittal craniosynostosis, Dandy-Walker malformation, hydrocephalus, craniofacial dysmorphism (including dolichocephaly, hypertelorism, micrognathia, positional ear deformity) and variable developmental delay. The inheritance pattern appears to be autosomal dominant. [ Orphanet:1538 ]

Term info

database cross reference
  • GARD:0000998 (MONDO:equivalentTo)
  • Orphanet:1538 (OMIM:123155)
  • OMIM:123155 (Orphanet:1538/e)
  • GARD:0001592 (MONDO:equivalentTo)
  • SCTID:720813007 (MONDO:equivalentTo)
  • MESH:C563973 (MONDO:equivalentTo)
  • UMLS:CN199608 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_malformation_syndrome

abbreviation
HDCPH1 [ OMIM:123155 MONDO:Lexical ]

definition

Craniosynostosis, Dandy-Walker malformation and hydrocephalus is a malformation disorder characterized by sagittal craniosynostosis, Dandy-Walker malformation, hydrocephalus, craniofacial dysmorphism (including dolichocephaly, hypertelorism, micrognathia, positional ear deformity) and variable developmental delay. The inheritance pattern appears to be autosomal dominant.

exactMatch

https://omim.org/entry/123155, http://identifiers.org/snomedct/720813007, http://identifiers.org/mesh/C563973, http://linkedlifedata.com/resource/umls/id/CN199608, http://purl.obolibrary.org/obo/Orphanet_1538

has exact synonym

craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome, Braddock-Jones-Superneau syndrome

has related synonym

Braddock Jones Superneau syndrome, HDCPH1, Dandy-Walker malformation with sagittal craniosynostosis and hydrocephalus, hydrocephalus, autosomal dominant, sagittal craniosynostosis, Dandy-Walker malformation and hydrocephalus

id

MONDO:0007401

seeAlso

https://rarediseases.info.nih.gov/diseases/1592/dandy-walker-malformation-with-sagittal-craniosynostosis-and-hydrocephalus