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Isolated cloverleaf skull syndrome

Disease definition

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.

ORPHA:2343

Classification level: Disorder
  • Synonym(s): -
  • Prevalence: Unknown
  • Inheritance: Not applicable 
  • Age of onset: Neonatal
  • ICD-10: Q75.0
  • OMIM: 148800  600775
  • UMLS: -
  • MeSH: -
  • GARD: 3115
  • MedDRA: -
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