Wahab Syndrome

Clinical Features

Malik et al. (2010) described a 5-generation Pakistani kindred in which 26 members had a unique combination of camptodactyly and clinodactyly of 5th fingers, mesoaxial camptodactyly of toes, ulnar deviation of 3rd fingers, syndactyly involving all digits, and bifid toes. The condition was bilateral and symmetrical and affected upper and lower limbs in all of those affected. The authors noted that syndactyly type II (see 186000) manifests noticeable phenotypic overlap with the clinical presentation in this family, but that the typical syndactyly type II changes such as fusion of fingers 3/4 and toes 2/3 with additional digits in the web were absent; in addition, camptodactyly of mesoaxial toes, ulnar deviation of 3rd fingers, and bifid hallux, which were prominent in this family, are not characteristic of type II syndactyly. This family was originally described by Wahab (1986).

Inheritance

The pedigree pattern in the family with digit malformations described by Malik et al. (2010) was consistent with autosomal dominant inheritance. There were 4 instances of male-to-male transmission. There was 1 likely case of incomplete penetrance.