Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome

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Synonyms: Jagell-Holmgren-Hofer syndrome

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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version May 2026

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Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome?

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