Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition A congenital genodermatosis with skin/mucosae involvement, characterized by very tight and thin skin with erosions and scaling, associated to a typical facial dysmorphism, arthrogryposis multiplex, fetal akinesia or hypokinesia deformation sequence (FADS) and pulmonary hypoplasia without neurological abnormalities. Disease data Classification Disease Synonyms Lethal hyperkeratosis-contracture syndrome Tight skin contracture syndrome Letalna dermopatia restrykcyjna Zespół hiperkeratozy i przykurczy Lethal restrictive dermopathy Lethal tight skin-contracture syndrome ORPHA code 1662 OMIM code 619793 ICD10 code Q82.8 ICD11 code EE6Y *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