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craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome

Go to external page 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. [ ]

Term info

Label

craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome

Synonyms
  • Braddock-Jones-Superneau syndrome
  • craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome
database cross reference
Subsets

gard_rare, ordo_malformation_syndrome

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 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

narrowMatch

https://icd.codes/icd10cm/Q03.1

see also

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