Briard and Kaplan (1982) reported an inbred kindred in which 3 females and 2 males in 2 sibships had postaxial polydactyly and minor syndactyly. The proposita was described as having significant cutaneous syndactyly involving the interdigital spaces to ... Briard and Kaplan (1982) reported an inbred kindred in which 3 females and 2 males in 2 sibships had postaxial polydactyly and minor syndactyly. The proposita was described as having significant cutaneous syndactyly involving the interdigital spaces to the distal third of the proximal phalanges of the fingers and toes 2 and 3 bilaterally. Her right hand also showed synostosis of the fifth and sixth metacarpals. Umm-e-Kalsoom et al. (2012) studied a consanguineous Pakistani family in which 2 brothers and 2 sisters had bilateral postaxial polydactyly of the hands and feet. The extra fingers on the hands were amputated. Radiographs of the feet of an affected individual showed malformed, partially duplicated, fork-shaped fifth metatarsals, with separate metatarsophalangeal and interphalangeal joints in the extra toes. One affected individual also had hallux valgus deformity of the right great toe. Teeth, nails, sweating, and hearing were normal in all affected individuals, and no facial dysmorphism or neurologic problems were present.
In a consanguineous Pakistani family segregating autosomal recessive postaxial polydactyly mapping to chromosome 13q13.3-q21, Umm-e-Kalsoom et al. (2012) sequenced the coding region and exon-intron borders of 10 candidate genes, including CHM1 (605147), TSC22D1 ... - Exclusion Studies In a consanguineous Pakistani family segregating autosomal recessive postaxial polydactyly mapping to chromosome 13q13.3-q21, Umm-e-Kalsoom et al. (2012) sequenced the coding region and exon-intron borders of 10 candidate genes, including CHM1 (605147), TSC22D1 (607715), FOXO1 (136533), DIAPH3 (614567), CCDC122 (613408), CKAP2 (611569), SUGT1 (604098), RANKL (602642), LPAR6 (609239), and C13ORF31 (613409), but did not find any potential sequence variant that could be responsible for the disease phenotype.