A comprehensive summary of recent knowledge in syndactyly (SD) is important for understanding the genetic etiology of SD and disease management. Thus, this review article provides background information on SD, as well as insights into phenotypic and genetic heterogeneity, newly identified gene mutations in various SD types, the role of HOXD13 in limb deformities, and recently introduced modern surgical techniques for SD. This article also proposes a procedure for genetic analysis to obtain a clearer genotype–phenotype correlation for SD in the future. We briefly describe the classification of non-syndromic SD based on variable phenotypes to explain different phenotypic features and mutations in the various genes responsible for the pathogenesis of different types of SD. We describe how different types of mutation in HOXD13 cause various types of SD, and how a mutation in HOXD13 could affect its interaction with other genes, which may be one of the reasons behind the differential phenotypes and incomplete penetrance. Furthermore, we also discuss some recently introduced modern surgical techniques, such as free skin grafting, improved flap techniques, and dermal fat grafting in combination with the Z-method incision, which have been successfully practiced clinically with no post-operative complications.

/pdf/recent-advances-in-syndactyly-basis-current-status-and-1sj9od43.pdf

Recent Advances in Syndactyly: Basis, Current Status and Future Perspectives

Charcot neuropathy (CN) is a known complication of diabetes. Zygodactyly is a congenital malformation causing cutaneous webbing of the second and third toes. We noticed patients with diabetes with CN frequently had zygodactyly. To determine the frequency of this, we examined a prospective series of 25 patients with CN and 29 patients without CN in a podiatry clinic. All had type 2 diabetes and peripheral neuropathy and were referred from diabetes or vascular departments sequentially. The patients with CN (both acute and chronic) had plain foot radiography (lateral, oblique, dorsoplantar weight-bearing views) with Lisfranc dislocation or disorganization or swelling consistent with a Charcot foot and confirmation with MRI. There was no finger syndactyly, facial dysmorphism, or genetic syndrome. Zygodactyly was present (skin webbing occurring from the first metatarsophalangeal joint distally) in 19 case subjects and one control subject (Fig. 1 A – D ). The χ2 statistic where …

/pdf/zygodactyly-syndactyly-type-a1-associated-with-midfoot-45n08g7k2n.pdf

Zygodactyly (Syndactyly Type A1) Associated With Midfoot Charcot Neuropathy and Diabetes

Screening for osteoporosis and fracture risk in women with type 1 diabetes

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Zygodactyly (Syndactyly Type A1) Associated With Midfoot Charcot Neuropathy and Diabetes

Screening for osteoporosis and fracture risk in women with type 1 diabetes