{"id":16557,"date":"2019-10-16T23:19:02","date_gmt":"2019-10-16T23:19:02","guid":{"rendered":"https:\/\/www.faktorzdravlje.com\/?page_id=16557"},"modified":"2026-10-04T23:47:12","modified_gmt":"2026-10-04T21:47:12","slug":"nasljedne-i-urodene-bolesti-kostiju-i-zglobova","status":"publish","type":"page","link":"https:\/\/www.faktorzdravlje.com\/en\/nasljedne-i-urodene-bolesti-kostiju-i-zglobova\/","title":{"rendered":"Hereditary and congenital bone and joint diseases"},"content":{"rendered":"
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Hereditary and congenital bone and joint diseases\n<\/h1>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/section>\n\t\t\t\t
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Bone and joint dysplasias are hereditary and congenital diseases of heterogeneous cause that affect both structure and function. Examples of this group of diseases include Marfan syndrome, Ehlers\u2013Danlos syndrome and osteogenesis imperfecta, among many others.<\/p>

Which tissue is predominantly affected depends on the disrupted structure of the proteins or substances that are poorly synthesised because of the congenital disease. Hereditary and metabolic bone and joint diseases can present in the bones, cartilage, tendons, ligaments and muscles, but also in seemingly unrelated organs such as the eyes, skin, teeth, heart, blood vessels and lungs.<\/p>

Osteogenesis imperfecta is caused by a defect in type I collagen. Clinically, it presents with brittle bones, blue sclerae and abnormal development and appearance of the teeth.<\/p>

Ehlers\u2013Danlos syndrome is caused by a genetic disorder of the extracellular matrix. It presents with joint hypermobility, skin hyperextensibility and tissue fragility.<\/p>

Marfan syndrome is caused by a deficiency of fibrillin-1. Clinically, it presents with a typical marfanoid habitus, an ectopic lens of the eye and dilatation of the aortic arch. The marfanoid habitus, or Marfan syndrome, is typical of tall, thin people with disproportionately long limbs, chest deformities, scoliosis, thoracic lordosis, limited elbow extension, flat feet, hip deformities and increased joint mobility. Changes in the shape of the head \u2013 dolichocephaly (an elongated head), enophthalmos (sunken eyeballs), retrognathia (a receding lower jaw) \u2013 as well as crowded teeth and a gothic (high-arched) palate are also typical features of this syndrome.<\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/section>\n\t\t\t\t<\/div>","protected":false},"excerpt":{"rendered":"

Nasljedne i uro\u0111ene bolesti kostiju i zglobova Displazije kostiju i zglobova nasljedne su i uro\u0111ene bolesti heterogenog uzroka koje zahva\u0107aju kako strukturu tako i funkciju. Predstavnici te skupine bolesti su Marfanov sindrom, Ehlers-Danlosov sindrom, osteogenesis imperfecta, ali i mnoge druge. Tkivo koje je predominantno zahva\u0107eno ovisi o poreme\u0107enoj strukturi proteina ili tvari koje se poradi […]<\/p>\n","protected":false},"author":1,"featured_media":17146,"parent":0,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"footnotes":""},"class_list":["post-16557","page","type-page","status-publish","has-post-thumbnail","hentry","clearfix"],"_links":{"self":[{"href":"https:\/\/www.faktorzdravlje.com\/en\/wp-json\/wp\/v2\/pages\/16557","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.faktorzdravlje.com\/en\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/www.faktorzdravlje.com\/en\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/www.faktorzdravlje.com\/en\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/www.faktorzdravlje.com\/en\/wp-json\/wp\/v2\/comments?post=16557"}],"version-history":[{"count":1,"href":"https:\/\/www.faktorzdravlje.com\/en\/wp-json\/wp\/v2\/pages\/16557\/revisions"}],"predecessor-version":[{"id":21631,"href":"https:\/\/www.faktorzdravlje.com\/en\/wp-json\/wp\/v2\/pages\/16557\/revisions\/21631"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.faktorzdravlje.com\/en\/wp-json\/wp\/v2\/media\/17146"}],"wp:attachment":[{"href":"https:\/\/www.faktorzdravlje.com\/en\/wp-json\/wp\/v2\/media?parent=16557"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}