Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome

Also known as: Jagell-Holmgren-Hofer syndrome

Definition

Orphanet

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.

Go To Source: Orphanet

Symptoms

Medical Term Other Names Description
Alopecia Hair loss Loss of hair from the head or body.
Ectropion Everted eyelid, Eyelid turned out, Eyelid folded out [more] An outward turning (eversion) or rotation of the eyelid margin.
Ichthyosis Hypertrophic ichthyosis, Ichthyosiform abnormality of the skin, Ichthyotic skin [more] An abnormality of the skin characterized the presence of excessive amounts of dry surface scales on the skin resulting from an abnormality of keratinization.
Eclabion Everted lips, Eclabium, Outward turned lips [more] A turning outward of the lip or lips, that is, eversion of the lips.
Intellectual disability Nonprogressive intellectual disability, Poor school performance, Mental-retardation, Dull intelligence, Nonprogressive mental retardation, Mental deficiency, Mental retardation, nonspecific, Low intelligence [more] Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70.
Ectodermal dysplasia Ectodermal dysplasia is a group of conditions in which there is abnormal development of the skin, hair, nails, teeth, or sweat glands.

Other Classifiers and IDs