Synpolydactyly 3

For a general phenotypic description and a discussion of genetic heterogeneity of synpolydactyly, see SPD1 (186000).

Clinical Features

Malik et al. (2006) reported a large Pakistani kindred in which 16 members over 6 generations had synpolydactyly. The cardinal features included osseous fusion of the third and fourth fingers and postaxial synpolydactyly of toes. Variable features included cutaneous webbing, symphalangism, abnormal metacarpals, clinodactyly, and camptodactyly.

Inheritance

The transmission pattern of synpolydactyly in the Pakistani family reported by Malik et al. (2006) was consistent with autosomal dominant inheritance.

Mapping

By genomewide linkage analysis in a large Pakistani kindred segregating synpolydactyly, Malik et al. (2006) identified a candidate locus on chromosome 14q11.2-q12 (maximum multipoint lod score of 5.01 at marker D14S264). Haplotype analysis in affected family members identified a common 10.72-Mb (20.54 cM) interval between markers D14S283 and D14S1060.