Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome

Orpha code: 2269OMIM code: 242510

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.

Disease data
Classification

Disease

Synonyms
Jagell-Holmgren-Hofer syndrome
Zespół Jagella, Holmgrena i Hofera
ORPHA code
2269
OMIM code
242510
ICD10 code
Q82.4
ICD11 code
LD27.0Y

No additional description.

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