Description of the disease * EnglishPolish Pobierz sekcję do PDF Definicja Cono-spondylar dysplasia is a rare genetic primary bone dysplasia disorder characterized by early-onset severe lumbar kyphosis, marked brachydactyly and irregular, pronounced cone epiphyses of the metacarpals and phalanges. Additional reported features include developmental delay, intellectual disability, hypotonia, epileptic seizures and mild facial dysmorphism (incl. long and thin or square-shaped face, slight mid-face hypoplasia, hypertelorism, epicanthic folds, low-set ears, anteverted nostrils). Radiographic findings also reveal hypoplasia of iliac wings and anterior defect of vertebral bodies. Disease data Klasyfikacja Malformation syndrome Synonimy Short stature-kyphosis-hypoplasia of basal ilia-cone epiphyses-facial dysmorphism syndrome Zespół niskiego wzrostu, kifozy, hipoplazji nasady kości biodrowej, stożkowatych nasad i dysmorfii twarzy Kod ORPHA 420794 Kod OMIM - Kod ICD10 Q77.7 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