Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome

Orpha code: 2269OMIM code: 242510

Definicja

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
Klasyfikacja

Disease

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

No additional description.

Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl