/ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome

ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome

Rare Disease

MONDO:0009444

Also Known As

Jagell-Holmgren-Hofer syndromeJagell Holmgren Hofer syndromeichthyosis alopecia eclabion ectropion intellectual disabilityichthyosis alopecia eclabion ectropion mental retardationichthyosis with alopecia, eclabium, ectropion, and intellectual disabilityichthyosis with alopecia, eclabium, ectropion, and mental retardation

Definition

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.