Orphanet: Ichthyosis alopecia eclabion ectropion intellectual disability syndrome

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Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome

Disease 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.

ORPHA:2269

Classification level: Disorder

Synonym(s):
- Jagell-Holmgren-Hofer syndrome
Prevalence: <1 / 1 000 000
Inheritance: Autosomal recessive
Age of onset: Infancy, Neonatal
ICD-10: -
OMIM: 242510
UMLS: C1855788
MeSH: -
GARD: 292
MedDRA: -

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Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome

ORPHA:2269

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