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Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome

ORPHA:2269· ICD-10 Q82.4

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

Prevalence
<1 / 1 000 000
Inheritance
Autosomal recessive
Age of onset
Infancy, Neonatal