Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition 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 Classification Disease Synonyms 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 ORPHA code 536532 OMIM code 618000 ICD10 code Q79.6 ICD11 code - *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