Symphalangism with metacarpophalangeal fusions and elbow abnormalities.
Three generations of a family manifest similar skeletal abnormalities: proximal symphalangism with several unusual features, metacarpophalangeal synostoses, massive tarsal and carpal fusions and abnormalities of the elbows (radial head dislocation, radiohumeral synostosis). Two members of this family were previously reported by Pearlman et al. as examples of the Nievergelt syndrome, but the affected individuals lack the mesomelic dysplasia that is an integral part of that entity. Moreover, the Nievergelt syndrome does not include symphalangism. The term "Nievergelt-Pearlman syndrome" should be dropped.
D000015:Abnormalities, Multiple / Q000145:classification / Q000235:genetics*; D000328:Adult; D004550:Elbow / Q000002:abnormalities / Q000000981:diagnostic imaging; D005260:Female; D005385:Fingers / Q000002:abnormalities; D005528:Foot / Q000000981:diagnostic imaging; D006225:Hand / Q000000981:diagnostic imaging; D006228:Hand Deformities, Congenital; D006801:Humans; D007231:Infant, Newborn; D017880:Limb Deformities, Congenital; D011859:Radiography; D013577:Syndrome; D009626:Terminology as Topic; D014034:Toes / Q000002:abnormalities