The multiple synostoses syndrome. A plea for simplicity.
Case reports are presented of a father and daughter suffering from what has formerly been called the Nievergelt-Pearlmansyndrome, and now termed "multiple synostoses syndrome." Features of the condition include: proximal symphalangism; tarsal and carpal coalitions; short first metacarpals and metatarsals; elbow fusions or dysplasias; conductive nerve deafness. This syndrome appears to be inherited as an autosomal dominant trait of variable penetrance, and probably caused by a single gene abnormality.
D000015:Abnormalities, Multiple; D000328:Adult; D003638:Deafness; D005260:Female; D005532:Foot Deformities, Congenital; D006228:Hand Deformities, Congenital; D006801:Humans; D007223:Infant; D008297:Male; D013577:Syndrome; D013580:Synostosis / Q000235:genetics