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Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome
rareIchthyosis-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.
- Identifiers
- MONDO:0009444 OMIM:242510Orphanet:2269
- Part of
- Ectodermal dysplasia syndrome
- Also known as
- ichthyosis alopecia eclabion ectropion intellectual disability · ichthyosis alopecia eclabion ectropion mental retardation · ichthyosis with alopecia, eclabium, ectropion, and mental retardation · Jagell Holmgren Hofer syndrome · Jagell-Holmgren-Hofer syndrome
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