title: Clinical, genetic, and molecular aspects of split-hand/foot malformation: an update.
abstract: We here provide an update on the clinical, genetic, and molecular aspects of split-hand/foot malformation (SHFM). This rare condition, affecting 1 in 8,500-25,000 newborns, is extremely complex because of its variability in clinical presentation, irregularities in its inheritance pattern, and the heterogeneity of molecular genetic alterations that can be found in affected individuals. Both syndromal and nonsyndromal forms are reviewed and the major molecular genetic alterations thus far reported in association with SHFM are discussed. This updated overview should be helpful for clinicians in their efforts to make an appropriate clinical and genetic diagnosis, provide an accurate recurrence risk assessment, and formulate a management plan.
authors.affiliation: Istituto di Genetica Medica, Università Cattolica del Sacro Cuore, Rome, Italy.
authors.forename: Fiorella
authors.initials: F
authors.lastname: Gurrieri
authors.forename: David B
authors.initials: DB
authors.lastname: Everman
mesh_terms: D002869:Chromosome Aberrations; D005532:Foot Deformities, Congenital / Q000175:diagnosis* / Q000235:genetics*; D006228:Hand Deformities, Congenital / Q000175:diagnosis* / Q000235:genetics*; D006801:Humans; D009154:Mutation; D010641:Phenotype; D040641:Quantitative Trait Loci; D013577:Syndrome
keywords: SHFM; congenital limb malformation; ectrodactyly; split foot; split hand