title: The Ehlers-Danlos syndromes, rare types.
abstract: The Ehlers-Danlos syndromes comprise a clinically and genetically heterogeneous group of heritable connective tissue disorders, which are characterized by joint hypermobility, skin hyperextensibility, and tissue friability. In the Villefranche Nosology, six subtypes were recognized: The classical, hypermobile, vascular, kyphoscoliotic, arthrochalasis, and dermatosparaxis subtypes of EDS. Except for the hypermobile subtype, defects had been identified in fibrillar collagens or in collagen-modifying enzymes. Since 1997, a whole spectrum of novel, clinically overlapping, rare EDS-variants have been delineated and genetic defects have been identified in an array of other extracellular matrix genes. Advances in molecular testing have made it possible to now identify the causative mutation for many patients presenting these phenotypes. The aim of this literature review is to summarize the current knowledge on the rare EDS subtypes and highlight areas for future research. © 2017 Wiley Periodicals, Inc.
authors.forename: Angela F
authors.initials: AF
authors.lastname: Brady
authors.forename: Serwet
authors.initials: S
authors.lastname: Demirdas
authors.forename: Sylvie
authors.initials: S
authors.lastname: Fournel-Gigleux
authors.forename: Neeti
authors.initials: N
authors.lastname: Ghali
authors.forename: Cecilia
authors.initials: C
authors.lastname: Giunta
authors.forename: Ines
authors.initials: I
authors.lastname: Kapferer-Seebacher
authors.forename: Tomoki
authors.initials: T
authors.lastname: Kosho
authors.forename: Roberto
authors.initials: R
authors.lastname: Mendoza-Londono
authors.forename: Michael F
authors.initials: MF
authors.lastname: Pope
authors.forename: Marianne
authors.initials: M
authors.lastname: Rohrbach
authors.forename: Tim
authors.initials: T
authors.lastname: Van Damme
authors.forename: Anthony
authors.initials: A
authors.lastname: Vandersteen
authors.forename: Caroline
authors.initials: C
authors.lastname: van Mourik
authors.forename: Nicol
authors.initials: N
authors.lastname: Voermans
authors.forename: Johannes
authors.initials: J
authors.lastname: Zschocke
authors.forename: Fransiska
authors.identifier: 0000-0002-5010-0304
authors.initials: F
authors.lastname: Malfait
mesh_terms: D004535:Ehlers-Danlos Syndrome / Q000145:classification* / Q000175:diagnosis / Q000235:genetics; D005109:Extracellular Matrix / Q000235:genetics; D018740:Genetic Heterogeneity; D006801:Humans; D025202:Molecular Diagnostic Techniques / Q000639:trends; D009154:Mutation
keywords: Ehlers-Danlos syndromes; collagen; heritable connective tissue disorders