Synpolydactyly (type II syndactyly) with aplasia/hypoplasia of the middle phalanges of the toes: report on a family with eight affected members in four generations.
We describe a new family with synpolydactyly (syndactyly type II) with 8 affected members in 4 generations. Aplasia/hypoplasia of the middle phalanges of the toes was also noted. In our opinion, this anomaly represents a frequent manifestation of synpolydactyly. No other major skeletal or extraskeletal malformations were present.
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Service for Clinical Genetics and Dysmorphology, Ospedali Galliera, Genova, Italy.
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D000328:Adult; D005260:Female; D006225:Hand / Q000098:blood supply / Q000000981:diagnostic imaging; D006228:Hand Deformities, Congenital / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D010375:Pedigree; D011859:Radiography; D013576:Syndactyly / Q000000981:diagnostic imaging / Q000235:genetics*; D014034:Toes / Q000002:abnormalities* / Q000000981:diagnostic imaging