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 July 2024

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

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Advocacy Organizations

Project CASK

VISION Project CASK believes in a world free of the life limitations and debilitating effects of CASK gene disorders. ​MISSION To accelerate breakthroughs in research to develop treatments and a cure for CASK gene disorders. ​VALUES Collaboration. Transparency. Urgency.

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Clinical Trials

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