Description of the disease * EnglishPolish Pobierz sekcję do PDF Definicja A rare junctional epidermolysis bullosa subtype characterized by late-onset blistering surrounded by erythema and localized on the anterior aspect of the lower legs, associated with dystrophic toenails, tooth enamel defects and mild to severe intellectual disability. Lens subluxation and mild facial dysmorphism (with short midface, prognatism and thin upper lip vermilion) are additional reported features. There have been no further descriptions in the literature since 1992. Disease data Klasyfikacja Disease Synonimy Late-onset localized JEB-intellectual disability syndrome Late-onset localized JEB-intellectual disability syndrome Kod ORPHA 231556 Kod OMIM 226440 Kod ICD10 Q81.8 Kod ICD11 - *Soruce Extended description of the disease Pobierz sekcję do PDF No additional description. Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl