Orphanet: CHIME syndrome

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CHIME syndrome

Disease definition

CHIME syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy.


Classification level: Disorder
  • Synonym(s):
    • Coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome
    • Congenital disorder of glycosylation due to PIGL deficiency
    • Neuroectodermal dysplasia, CHIME type
    • Neuroectodermal syndrome, Zunich type
    • PIGL-CDG
    • Zunich-Kaye syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood
  • ICD-10: Q87.8
  • OMIM: 280000
  • UMLS: C1848392
  • MeSH: -
  • GARD: 310
  • MedDRA: -

Detailed information


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