Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition A rare, hereditary, developmental defect with connective tissue involvement characterized by cutis laxa of variable severity, in utero growth restriction, congenital hip dislocation and joint hyperlaxity, wrinkling of the skin, in particular the dorsum of hands and feet, and progeroid facial features. Hypotonia, developmental delay, and intellectual disability are common. In addition, cataracts, corneal clouding, wormian bones, lipodystrophy and osteopenia have been reported. Disease data Classification Disease Synonyms ARCL2, progeroid type ARCL2, typ progeroidalny ARCL2B Autosomalna recesywna luźna skóra typu 2, typ progeroidalny ARCL2B Autosomal recessive cutis laxa type 2, progeroid type ORPHA code 357064 OMIM code 612940 ICD10 code Q82.8 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