JSON

isolated cloverleaf skull syndrome

Go to external page http://purl.obolibrary.org/obo/MONDO_0007861

Isolated cloverleaf skull syndrome is a form of craniosynostosis involving multiple sutures (coronal, lambdoidal, sagittal and metopic) characterized by a trilobular skull of varying severity (frontal towering and bossing, temporal bulging and a flat posterior skull), dysmorphic features (downslanting palpebral fissures, midface hypoplasia, and extreme proptosis) and that is complicated by hydrocephalus, cerebral venous hypertension, developmental delay/intellectual disability and hind brain herniation. [ Orphanet:2343 ]

Synonyms: isolated cloverleaf skull syndrome

This is just here as a test because I lose it

Term information

database cross reference
  • Orphanet:2343 (OMIM:148800)
  • MEDGEN:98141 (MONDO:equivalentTo)
  • OMIM:148800 (Orphanet:2343/e)
  • GARD:3115 (MONDO:GARD)
  • UMLS:C0432126 (MONDO:equivalentTo)
  • SCTID:254022009 (MONDO:equivalentTo)
  • MESH:C536884 (MONDO:equivalentTo)
Subsets

gard_rare, otar, rare, ordo_morphological_anomaly, nord_rare

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/6751

exactMatch

http://identifiers.org/medgen/98141

http://identifiers.org/snomedct/254022009

https://omim.org/entry/148800

http://identifiers.org/mesh/C536884

http://linkedlifedata.com/resource/umls/id/C0432126

has related synonym

Kleeblattschadel

KLEEBLATTSCHAEDEL

cloverleaf skull syndrome

Kleeblattschaedel-deformity syndrome

cloverleaf skull

Kleeblattschaedel syndrome

Kleeblattschaedel deformity syndrome

id

MONDO:0007861

seeAlso

https://rarediseases.info.nih.gov/diseases/3115/kleeblattschaedel-syndrome

Term relations