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These autosomal recessive syndromes are caused by homozygous mutation or deletion of respectively<jats:italic>SH3PXD2B<\/jats:italic>(SH3 and PX Domains 2B),<jats:italic>MMP14<\/jats:italic>(matrix metalloproteinase 14), or<jats:italic>MMP2<\/jats:italic>. Here, we give an overview of the clinical features of 63 previously reported patients with an<jats:italic>SH3PXD2B<\/jats:italic>,<jats:italic>MMP14<\/jats:italic>, or<jats:italic>MMP2<\/jats:italic>mutation, demonstrating considerable clinical overlap between FTHS, WS, and MONA. Interestingly, the protein products of<jats:italic>SH3PXD2B<\/jats:italic>,<jats:italic>MMP14<\/jats:italic>, and<jats:italic>MMP2<\/jats:italic>directly cooperate in collagen remodeling. We review animal models for these three disorders that accurately reflect the major clinical features and likewise show significant phenotypical similarity with each other. Furthermore, they demonstrate that defective collagen remodeling is central in the underlying pathology. As such, we propose a nosological revision, placing these<jats:italic>SH3PXD2B<\/jats:italic>,<jats:italic>MMP14<\/jats:italic>, and<jats:italic>MMP2<\/jats:italic>related syndromes in a novel \u201cdefective collagen\u2010remodelling spectrum (DECORS)\u201d. In our opinion, this revised nosology better reflects the central role for impaired collagen remodeling, a potential target for pharmaceutical intervention.<\/jats:p>","DOI":"10.1002\/ajmg.a.61264","type":"journal-article","created":{"date-parts":[[2019,6,20]],"date-time":"2019-06-20T05:03:40Z","timestamp":1561007020000},"page":"1652-1664","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":24,"title":["Multicentric osteolytic syndromes represent a phenotypic spectrum defined by defective collagen remodeling"],"prefix":"10.1002","volume":"179","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2190-7835","authenticated-orcid":false,"given":"Ivo J. H. 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