Orphanet: Ichthyosis alopecia eclabion ectropion intellectual disability syndrome
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Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome

Disease definition

Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome is an ectodermal dysplasia syndrome characterized by severe generalized lamellar icthyosis at birth with alopecia, eclabium, ectropion and intellectual disability. Although similar to Sjögren-Larsson syndrome, this syndrome lacks the presence of neurologic or macular changes. There have been no further descriptions in the literature since 1987.

ORPHA:2269

Classification level: Disorder
  • Synonym(s):
    • Jagell-Holmgren-Hofer syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: -
  • OMIM: 242510
  • UMLS: C1855788
  • MeSH: -
  • GARD: 292
  • MedDRA: -

Detailed information

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