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Am J Med Genet C Semin Med Genet. 2017 Mar;175(1):70-115. doi: 10.1002/ajmg.c.31550.

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.

KEYWORDS:

Ehlers-Danlos syndromes; collagen; heritable connective tissue disorders

PMID:
28306225
DOI:
10.1002/ajmg.c.31550
[Indexed for MEDLINE]

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