Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition 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 Classification Disease Synonyms Generalized enchondromatosis with platyspondyly Generalized enchondromatosis with platyspondyly ORPHA code 99647 OMIM code - ICD10 code Q78.8 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