title: A simple method for characterising syndactyly in clinical practice.
abstract: Non-syndromic syndactyly is a heterogeneous group of limb malformations involving webbing of fingers and/or toes. There are at least nine non-syndromic types described in the literature. For the clinician and the genetic counsellor not having gathered experience with this malformation, it is rather tedious to identify the correct subtype for the patient's phenotype. We therefore present a protocol for clinical use, which visualises the malformation in a graphical way and thereby simplifies typing. In addition, this protocol provides a simple documentation system for reporting clinical data for new syndactyly families. It might encourage clinicians to report families that are still unclassifed and thus, helping to extend and improve the existing classification system.
authors.affiliation: Zentrum für Humangenetik, Klinikum der Philipps-Universität Marburg, Germany. malik@staff.uni-marburg.de
authors.forename: S
authors.initials: S
authors.lastname: Malik
authors.forename: W
authors.initials: W
authors.lastname: Ahmad
authors.forename: K H
authors.initials: KH
authors.lastname: Grzeschik
authors.forename: M C
authors.initials: MC
authors.lastname: Koch
mesh_terms: D002135:Calcium-Binding Proteins / Q000235:genetics; D003937:Diagnosis, Differential; D005530:Foot Deformities / Q000235:genetics; D018398:Homeodomain Proteins / Q000235:genetics; D006801:Humans; D050279:Metacarpal Bones / Q000002:abnormalities; D010641:Phenotype; D017354:Point Mutation / Q000235:genetics; D013576:Syndactyly / Q000145:classification* / Q000235:genetics*; D014157:Transcription Factors / Q000235:genetics
chemical_list: D002135:Calcium-Binding Proteins; C513184:HOXD13 protein, human; D018398:Homeodomain Proteins; D014157:Transcription Factors; C060820:fibulin