The Kniest syndrome.
D000293:Adolescent; D000328:Adult; D001848:Bone Diseases, Developmental / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000235:genetics / Q000473:pathology; D001842:Bone and Bones / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D003286:Contracture / Q000175:diagnosis; D004200:Diseases in Twins; D004392:Dwarfism / Q000175:diagnosis; D005124:Eye Abnormalities; D005145:Face; D005260:Female; D006801:Humans; D007223:Infant; D007592:Joint Diseases / Q000175:diagnosis; D008297:Male; D008854:Microscopy, Electron; D011859:Radiography; D013577:Syndrome; D013909:Thorax / Q000002:abnormalities