You are using an outdated browser. Please upgrade your browser to improve your experience.

ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome

Disease Summary
Associated Targets ()

Mondo Description 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.
Mondo Term and Equivalent IDs
MONDO:0009444:  ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome
GARD:0000292: 
MESH:C537364: 
Orphanet:2269: 
UMLS:C1855788: