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ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome

MONDO:0009444

Also known as:Jagell-Holmgren-Hofer syndromeichthyosis alopecia eclabion ectropion intellectual disabilityichthyosis alopecia eclabion ectropion mental retardation

Overview

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 Sjogren-Larsson syndrome, this syndrome lacks the presence of neurologic or macular changes. There have been no further descriptions in the literature since 1987.

Diagnosis

Biomarker and diagnostic research for ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome has been reported in the published literature.

Prognosis

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome.

291 publications have been identified in PubMed for ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome. Kisho has analyzed 71 by research type. Research spans Review / Meta-Analysis (37%), Basic Science / Preclinical (30%), and Epidemiology / Natural History (14%).

Research Type	Count	% of Total
Research summaries	26

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 8:42 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:242510

Orphanet

European rare disease database

Orphanet:2269

GARD

Genetic and Rare Diseases Info Center

GARD:292

Questions for Your Care Team

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ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome

Overview

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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