Description of the disease * EnglishPolish Pobierz sekcję do PDF Definicja Cheirospondyloenchondromatosis is an extremely rare type of enchondromatosis of very early onset (from neonatal period to infancy) characterized by symmetrical multiple enchondromas with metacarpal and phalangeal involvement resulting in short hands and feet, platyspondyly, mild to moderate short stature and intellectual disability. Disease data Klasyfikacja Disease Synonimy Generalized enchondromatosis with platyspondyly Generalized enchondromatosis with platyspondyly Kod ORPHA 99647 Kod OMIM - Kod ICD10 Q78.8 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