ReviewJournal of applied genetics2014
Split-hand/foot malformation - molecular cause and implications in genetic counseling.
Review in Journal of applied genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 43 papers, 1 of them a synthesis that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
43 citing papers in PubMed, 1 synthesis or guideline pooled it, 122 citations in OpenAlex.
- Integrative genomic analysis predicts novel functional enhancer-SNPs for bone mineral density.Human genetics · 2019Pooled it
- Management of Cubital Tunnel Syndrome in Split-Hand/Split-Foot Malformation: A Case Report and Review of Ulnar Nerve Dependence in Cleft Hand Prehension.Journal of orthopaedic case reports · 2026Article
- Complications of Limb Salvage in Concordant Bilateral Fibular Hemimelia and Tetramelic Ectrodactyly: A Case Report.Journal of orthopaedic case reports · 2026Article
- Article
- Musculotendinous Anatomy in Congenital Split Foot: Anatomical Description of a Rare Case and Literature Review.Life (Basel, Switzerland) · 2026Article
- Anatomical Variations in Bilateral Hand Oligodactyly: A Case Analysis of Cleft Hand.Diagnostics (Basel, Switzerland) · 2026Article
- Novel variants ofFrontiers in genetics · 2026Article
- Identification of novel tumor protein 63 variant associated with split-hand/foot malformation and tooth agenesis.Frontiers in medicine · 2026Article
- Intrafamilial Phenotypic Variability of theGenes · 2025Review
- A novel approach to detecting microduplication in split hand/foot malformation type 3 at the single-cell level: SHFM as a case study.Orphanet journal of rare diseases · 2024Article
- Sall genes regulate hindlimb initiation in mouse embryos.Genetics · 2024Article
- Human split hand/foot variants are not as functional as wildtype human PRDM1 in the rescue of craniofacial defects.Birth defects research · 2024Article
- Article
- Novel genetic syndrome manifesting with cerebral atrophy, cataract, hypoacusis, diabetes, and brachy-/syndactyly.Journal of family medicine and primary care · 2023Article
- Review
- A complex structural variant nearHGG advances · 2023Article
- PRDM1 DNA-binding zinc finger domain is required for normal limb development and is disrupted in split hand/foot malformation.Disease models & mechanisms · 2023Article
- A Rare Case Report of Split Hand and Foot Malformation.Journal of orthopaedic case reports · 2023Article
- Combinatorial effects on gene expression at the Lbx1/Fgf8 locus resolve split-hand/foot malformation type 3.Nature communications · 2023Article
- A genotype-phenotype correlation in split-hand/foot malformation type 1: further refinement of the phenotypic subregions within the 7q21.3 locus.Frontiers in molecular biosciences · 2023Article
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
Split-hand/foot malformation (SHFM) is a congenital limb defect affecting predominantly the central rays of the autopod and occurs either as an isolated trait or part of a multiple congenital anomaly syndrome. SHFM is usually sporadic, familial forms are uncommon. The condition is clinically and genetically heterogeneous and shows mostly autosomal dominant inheritance with variable expressivity and reduced penetrance. To date, seven chromosomal loci associated with isolated SHFM have been described, i.e., SHFM1 to 6 and SHFM/SHFLD. The autosomal dominant mode of inheritance is typical for SHFM1, SHFM3, SHFM4, SHFM5. Autosomal recessive and X-linked inheritance is very uncommon and have been noted only in a few families. Most of the known SHFM loci are associated with chromosomal rearrangements that involve small deletions or duplications of the human genome. In addition, three genes, i.e., TP63, WNT10B, and DLX5 are known to carry point mutations in patients affected by SHFM. In this review, we focus on the known molecular basis of isolated SHFM. We provide clinical and molecular information about each type of abnormality as well as discuss the underlying pathways and mechanism that contribute to their development. Recent progress in the understanding of SHFM pathogenesis currently allows for the identification of causative genetic changes in about 50 % of the patients affected by this condition. Therefore, we propose a diagnostic flow-chart helpful in the planning of molecular genetic tests aimed at identifying disease causing mutation. Finally, we address the issue of genetic counseling, which can be extremely difficult and challenging especially in sporadic SHFM cases.
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