Description of the disease * EnglishPolish Pobierz sekcję do PDF Definicja A rare systemic disease characterized by generalized joint hypermobility with recurrent joint dislocations, redundant and hyperextensible skin with poor wound healing and abnormal scarring, easy bruising, and osteopenia/osteoporosis. Additional manifestations include hypotonia, delayed motor development, foot deformities, prominent superficial veins in the chest region, vascular complications (like mitral valve prolapse and aortic root dilation), hernias, dental anomalies, scoliosis, and facial dysmorphisms (like high palate, micrognathia, narrow palate). Mode of inheritance is autosomal recessive. Disease data Klasyfikacja Disease Synonimy AEBP1-related EDS AEBP1-related Ehlers-Danlos syndrome Classical-like EDS type 2 clEDS type 2 AEBP1-related EDS AEBP1-related Ehlers-Danlos syndrome Classical-like EDS type 2 clEDS type 2 Kod ORPHA 536532 Kod OMIM 618000 Kod ICD10 Q79.6 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