ReviewOrphanet journal of rare diseases2022
Genetic determinants of syndactyly: perspectives on pathogenesis and diagnosis.
Review in Orphanet journal of rare diseases, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 18 citations in OpenAlex.
- Polydactyly and syndactyly in a Chinese family with Floating-Harbor syndrome: an expansion of the clinical phenotype.Frontiers in genetics · 2026Article
- A Systematic Review of Digital Deformities in Pediatric Patients and Their Podiatric Treatments.Children (Basel, Switzerland) · 2025Review
- Congenital melanocytic nevi in Bardet-Biedl syndrome.Orphanet journal of rare diseases · 2025Article
- Delayed Surgical Management of Congenital Syndactyly Improves Range of Motion: A Long-Term Follow-Up.Journal of clinical medicine · 2025Article
- Bid Protein: A Participant in the Apoptotic Network with Roles in Viral Infections.International journal of molecular sciences · 2025Review
- Syndactyly in Twins: A Case Report.World journal of plastic surgery · 2025Article
- A Complex Case of Clino-Syndactyly with Fourth Metacarpal Aplasia.Life (Basel, Switzerland) · 2023Article
- The changing epidemiology of syndactyly in Chinese newborns: a nationwide surveillance-based study.BMC pregnancy and childbirth · 2023Article
- Review
- Genetics of congenital anomalies of the hand.World journal of orthopedics · 2022Article
Corrections and comments
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The formation of the digits is a tightly regulated process. During embryogenesis, disturbance of genetic pathways in limb development could result in syndactyly; a common congenital malformation consisting of webbing in adjacent digits. Currently, there is a paucity of knowledge regarding the exact developmental mechanism leading to this condition. The best studied canonical interactions of Wingless-type-Bone Morphogenic Protein-Fibroblast Growth Factor (WNT-BMP-FGF8), plays a role in the interdigital cell death (ICD) which is thought to be repressed in human syndactyly. Animal studies have displayed other pathways such as the Notch signaling, metalloprotease and non-canonical WNT-Planar cell polarity (PCP), to also contribute to failure of ICD, although less prominence has been given. The current diagnosis is based on a clinical evaluation followed by radiography when indicated, and surgical release of digits at 6 months of age is recommended. This review discusses the interactions repressing ICD in syndactyly, and characterizes genes associated with non-syndromic and selected syndromes involving syndactyly, according to the best studied canonical WNT-BMP-FGF interactions in humans. Additionally, the controversies regarding the current syndactyly classification and the effect of non-coding elements are evaluated, which to our knowledge has not been previously highlighted. The aim of the review is to better understand the developmental process leading to this condition.
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