Description of the disease * EnglishPolish Pobierz sekcję do PDF Definicja Symbrachydactyly of hands and feet is a rare, non-syndromic limb reduction defect disorder characterized by unilateral or bilateral brachydactyly, cutaneous syndactyly and global hypoplasia of the hand and/or foot, with underlying muscles, tendons, ligaments and bones being affected but without other associated limb anomalies. Patients typically present short, stiff, webbed or missing fingers and/or toes which are often replaced with small stumps (nubbins) with residual nails. Disease data Klasyfikacja Malformation syndrome Synonimy De Smet-Fabry-Fryns syndrome Zespół De Smeta, Fabry'ego i Frynsa Kod ORPHA 1570 Kod OMIM - Kod ICD10 Q73.8 Kod ICD11 LB75.2 *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