Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition De Barsy syndrome (DBS) is characterized by facial dysmorphism (down-slanting palpebral fissures, a broad flat nasal bridge and a small mouth) with a progeroid appearance, large and late-closing fontanel, cutis laxa (CL), joint hyperlaxity, athetoid movements and hyperreflexia, pre- and postnatal growth retardation, intellectual deficit and developmental delay, and corneal clouding and cataract. Disease data Classification Disease Synonyms Cutis laxa-corneal clouding-intellectual disability syndrome Skóra wiotka - zamglenie rogówki - niepełnosprawność intelektualna Zespół progerii typu De Barsy Progeroid syndrome, De Barsy type ORPHA code 2962 OMIM code 614438 ICD10 code Q87.8 ICD11 code LD28.2 *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