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JHS\/EDS\u2010HT also presents with other connective tissue features affecting a variety of structures and organs, such as skin, eye, bone, and internal organs. However, most of these signs are present in variable combinations and severity in many other heritable connective tissue disorders. Accordingly, JHS\/EDS\u2010HT is an \u201cexclusion\u201d diagnosis which needs the absence of any consistent feature indicative of other partially overlapping connective tissue disorders. While both Villefranche and Brighton criteria include such an exclusion as a mandatory item, a systematic approach for reaching a stringent clinical diagnosis of JHS\/EDS\u2010HT is still lacking. The absence of a consensus on the diagnostic approach to JHS\/EDS\u2010HT concerning its clinical boundaries with similar conditions contribute to limit our actual understanding of the pathologic and molecular bases of this disorder. In this review, we revise the differential diagnosis of JHS\/EDS\u2010HT with those heritable connective tissue disorders which show a significant overlap with the former and mostly include EDS classic, vascular and kyphoscoliotic types,<jats:italic>osteogenesis imperfecta<\/jats:italic>, Marfan syndrome, Loeys\u2013Dietz syndrome, arterial tortuosity syndrome, and lateral meningocele syndrome. A diagnostic flow chart is also offered with the attempt to support the less experienced clinician in stringently recognizing JHS\/EDS\u2010HT and stimulate the debate in the scientific community for both management and research purposes. \u00a9 2015 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.c.31429","type":"journal-article","created":{"date-parts":[[2015,3,27]],"date-time":"2015-03-27T22:37:36Z","timestamp":1427495856000},"page":"6-22","source":"Crossref","is-referenced-by-count":112,"title":["Differential diagnosis and diagnostic flow chart of joint hypermobility syndrome\/ehlers\u2010danlos syndrome hypermobility type compared to other heritable connective tissue disorders"],"prefix":"10.1002","volume":"169","author":[{"given":"Marina","family":"Colombi","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chiara","family":"Dordoni","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicola","family":"Chiarelli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marco","family":"Ritelli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2015,3,26]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2010.11.023"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.12.004"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/ard.32.5.413"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19980428)77:1<31::AID-AJMG8>3.0.CO;2-O"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2348"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0997-104"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.05.007"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-8-68"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.berh.2007.12.005"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20623"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10067-014-2618-y"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33231"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33585"},{"key":"e_1_2_8_15_1","first-page":"751","article-title":"Ehlers\u2010Danlos syndrome, hypermobility type: An underdiagnosed hereditary connective tissue disorder with mucocutaneous, articular, and systemic manifestations","author":"Castori M","year":"2012","journal-title":"ISRN Dermatol"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35506"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35266"},{"key":"e_1_2_8_18_1","first-page":"13","article-title":"Joint hypermobility syndrome (a.k.a. syndrome hypermobility type): An updated critique","volume":"148","author":"Castori M","year":"2013","journal-title":"G Ital Dermatol Venereol"},{"key":"e_1_2_8_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36315"},{"key":"e_1_2_8_20_1","doi-asserted-by":"crossref","first-page":"528","DOI":"10.1002\/ajmg.a.36301","article-title":"Late diagnosis of lateral meningocele syndrome in a 55\u2010year\u2010old woman with symptoms of joint instability and chronic musculoskeletal pain","volume":"164","author":"Castori M","year":"2013","journal-title":"Am J Med Genet Part A"},{"key":"e_1_2_8_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36805"},{"key":"e_1_2_8_22_1","article-title":"Spectrum of mucocutaneous manifestation in 227 patients with Joint Hypermobility Syndrome\/Ehlers\u2010Danlos Syndrome, Hypermobility Type","author":"Castori M","year":"2015","journal-title":"Am J Med Genet C"},{"key":"e_1_2_8_23_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1764"},{"key":"e_1_2_8_24_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.34134"},{"key":"e_1_2_8_25_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2141.2004.05220.x"},{"key":"e_1_2_8_26_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.semarthrit.2013.12.006"},{"key":"e_1_2_8_27_1","unstructured":"Dietz HC. 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