{"id":6803,"date":"2026-11-01T10:06:02","date_gmt":"2026-11-01T08:06:02","guid":{"rendered":"https:\/\/rijetke-bolesti.com\/?p=6803"},"modified":"2026-11-13T10:07:05","modified_gmt":"2026-11-13T08:07:05","slug":"mjesec-svjesnosti-o-rijetkim-dijagnozama-studeni","status":"publish","type":"post","link":"https:\/\/rijetke-bolesti.com\/en\/mjesec-svjesnosti-o-rijetkim-dijagnozama-studeni\/","title":{"rendered":"Mjesec svjesnosti o rijetkim dijagnozama \u2013\u00a0studeni"},"content":{"rendered":"<p class=\"wp-block-paragraph\">Studeni je mjesec u kojem se obilje\u017eavaju brojni dani posve\u0107eni podizanju svijesti o rijetkim bolestima. Ova obilje\u017eavanja prilika su za informiranje javnosti o rijetkim dijagnozama, njihovim simptomima i izazovima s kojima se svakodnevno suo\u010davaju oboljeli i njihove obitelji. Pravodobno prepoznavanje simptoma, rana dijagnostika i odgovaraju\u0107a zdravstvena skrb od iznimne su va\u017enosti za pobolj\u0161anje kvalitete \u017eivota osoba koje \u017eive s rijetkim bolestima.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><\/p>\n\n\n\n<p class=\"wp-block-paragraph\">1. studenoga \u2013 Me\u0111unarodni dan podizanja svijesti o Lennox-Gastautovu sindromu (LGS)<\/p>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"alignright size-full is-resized\"><img loading=\"lazy\" decoding=\"async\" width=\"387\" height=\"516\" src=\"https:\/\/rijetke-bolesti.com\/wp-content\/uploads\/2026\/11\/Lenox.jpeg\" alt=\"\" class=\"wp-image-6804\" style=\"aspect-ratio:0.7499924295188202;width:200px;height:auto\" srcset=\"https:\/\/rijetke-bolesti.com\/wp-content\/uploads\/2026\/11\/Lenox.jpeg 387w, https:\/\/rijetke-bolesti.com\/wp-content\/uploads\/2026\/11\/Lenox-225x300.jpeg 225w, https:\/\/rijetke-bolesti.com\/wp-content\/uploads\/2026\/11\/Lenox-9x12.jpeg 9w\" sizes=\"auto, (max-width: 387px) 100vw, 387px\" \/><\/figure>\n<\/div>\n\n\n<p class=\"wp-block-paragraph\"><\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Lennox-Gastautov sindrom rijedak je i te\u017eak oblik epilepti\u010dkog encefalopatskog poreme\u0107aja koji se naj\u010de\u0161\u0107e razvija u ranom djetinjstvu. Obilje\u017eavaju ga razli\u010dite vrste epilepti\u010dkih napadaja, koji su \u010desto otporni na lije\u010denje, te razvojne i intelektualne te\u0161ko\u0107e. Bolest mo\u017ee zna\u010dajno utjecati na svakodnevno funkcioniranje i kvalitetu \u017eivota oboljelih, zbog \u010dega su va\u017eni pravodobno prepoznavanje, odgovaraju\u0107e lije\u010denje i kontinuirana podr\u0161ka obiteljima.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><\/p>\n\n\n\n<p class=\"wp-block-paragraph\">1. studenoga \u2013 Svjetski dan svjesnosti o akromegaliji<\/p>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"alignleft size-full is-resized\"><img loading=\"lazy\" decoding=\"async\" width=\"399\" height=\"501\" src=\"https:\/\/rijetke-bolesti.com\/wp-content\/uploads\/2026\/11\/akromegalija.jpeg\" alt=\"\" class=\"wp-image-6805\" style=\"aspect-ratio:0.7964008358544117;width:190px;height:auto\" srcset=\"https:\/\/rijetke-bolesti.com\/wp-content\/uploads\/2026\/11\/akromegalija.jpeg 399w, https:\/\/rijetke-bolesti.com\/wp-content\/uploads\/2026\/11\/akromegalija-239x300.jpeg 239w, https:\/\/rijetke-bolesti.com\/wp-content\/uploads\/2026\/11\/akromegalija-9x12.jpeg 9w\" sizes=\"auto, (max-width: 399px) 100vw, 399px\" \/><\/figure>\n<\/div>\n\n\n<p class=\"wp-block-paragraph\"><\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Akromegalija je rijetka hormonska bolest koja nastaje zbog prekomjernog lu\u010denja hormona rasta, naj\u010de\u0161\u0107e uslijed dobro\u0107udnog tumora hipofize. Karakteriziraju je postupno pove\u0107anje \u0161aka i stopala, promjene crta lica, pove\u0107anje pojedinih organa i drugi zdravstveni problemi. Budu\u0107i da se simptomi razvijaju polako, bolest se \u010desto dijagnosticira s odgodom. Pravodobno postavljanje dijagnoze va\u017eno je za sprje\u010davanje ozbiljnih komplikacija.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><\/p>\n\n\n\n<p class=\"wp-block-paragraph\">2. studenoga \u2013 Dan svjesnosti o kompleksnom regionalnom bolnom sindromu (CRPS)<\/p>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"alignright size-full is-resized\"><img loading=\"lazy\" decoding=\"async\" width=\"900\" height=\"900\" src=\"https:\/\/rijetke-bolesti.com\/wp-content\/uploads\/2026\/11\/Copy-of-Complex-Regional-Pain-Syndrome.png\" alt=\"\" class=\"wp-image-6806\" style=\"width:254px;height:auto\" srcset=\"https:\/\/rijetke-bolesti.com\/wp-content\/uploads\/2026\/11\/Copy-of-Complex-Regional-Pain-Syndrome.png 900w, https:\/\/rijetke-bolesti.com\/wp-content\/uploads\/2026\/11\/Copy-of-Complex-Regional-Pain-Syndrome-300x300.png 300w, https:\/\/rijetke-bolesti.com\/wp-content\/uploads\/2026\/11\/Copy-of-Complex-Regional-Pain-Syndrome-150x150.png 150w, https:\/\/rijetke-bolesti.com\/wp-content\/uploads\/2026\/11\/Copy-of-Complex-Regional-Pain-Syndrome-768x768.png 768w, https:\/\/rijetke-bolesti.com\/wp-content\/uploads\/2026\/11\/Copy-of-Complex-Regional-Pain-Syndrome-12x12.png 12w, https:\/\/rijetke-bolesti.com\/wp-content\/uploads\/2026\/11\/Copy-of-Complex-Regional-Pain-Syndrome-660x660.png 660w\" sizes=\"auto, (max-width: 900px) 100vw, 900px\" \/><\/figure>\n<\/div>\n\n\n<p class=\"wp-block-paragraph\">Color the World Orange Day for Complex Regional Pain Syndrome<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Kompleksni regionalni bolni sindrom (CRPS) kroni\u010dno je bolno stanje koje naj\u010de\u0161\u0107e zahva\u0107a jedan ud, obi\u010dno nakon ozljede, operacije ili drugog o\u0161te\u0107enja. Karakterizira ga dugotrajna i \u010desto izrazito intenzivna bol, koja je nerazmjerna po\u010detnoj ozljedi. Mogu se pojaviti oticanje, promjene boje i temperature ko\u017ee, preosjetljivost na dodir, uko\u010denost i pote\u0161ko\u0107e s pokretanjem zahva\u0107enog uda. Bolest mo\u017ee zna\u010dajno ograni\u010diti svakodnevne aktivnosti i kvalitetu \u017eivota.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><\/p>\n\n\n\n<p class=\"wp-block-paragraph\">6. studenoga \u2013 Dan podizanja svijesti o familijarnom sindromu hilomikronemije (FCS)<\/p>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"alignleft size-full is-resized\"><img loading=\"lazy\" decoding=\"async\" width=\"738\" height=\"414\" src=\"https:\/\/rijetke-bolesti.com\/wp-content\/uploads\/2026\/11\/Familial-Chylomicronemia-Syndrome.jpeg\" alt=\"\" class=\"wp-image-6807\" style=\"aspect-ratio:1.7827055182305427;width:405px;height:auto\" srcset=\"https:\/\/rijetke-bolesti.com\/wp-content\/uploads\/2026\/11\/Familial-Chylomicronemia-Syndrome.jpeg 738w, https:\/\/rijetke-bolesti.com\/wp-content\/uploads\/2026\/11\/Familial-Chylomicronemia-Syndrome-300x168.jpeg 300w, https:\/\/rijetke-bolesti.com\/wp-content\/uploads\/2026\/11\/Familial-Chylomicronemia-Syndrome-18x10.jpeg 18w\" sizes=\"auto, (max-width: 738px) 100vw, 738px\" \/><\/figure>\n<\/div>\n\n\n<p class=\"wp-block-paragraph\">Familijarni sindrom hilomikronemije (FCS) iznimno je rijetka nasljedna metaboli\u010dka bolest koju karakterizira izrazito povi\u0161ena razina triglicerida u krvi zbog poreme\u0107aja njihove razgradnje. Bolest mo\u017ee uzrokovati ponavljaju\u0107e epizode akutnog pankreatitisa, odnosno upale gu\u0161tera\u010de, koje mogu biti ozbiljne i \u017eivotno ugro\u017eavaju\u0107e. Oboljeli \u010desto imaju bolove u trbuhu, mu\u010dninu i druge probavne tegobe. Za kontrolu bolesti va\u017eni su odgovaraju\u0107a prehrana, medicinsko pra\u0107enje i specifi\u010dno lije\u010denje.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><\/p>\n\n\n\n<p class=\"wp-block-paragraph\">8. studenoga \u2013 Dan svjesnosti o Aicardijevu sindromu<\/p>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"alignright size-full is-resized\"><img loading=\"lazy\" decoding=\"async\" width=\"447\" height=\"447\" src=\"https:\/\/rijetke-bolesti.com\/wp-content\/uploads\/2026\/11\/Aicardi-Syndrome-Awareness.jpeg\" alt=\"\" class=\"wp-image-6808\" style=\"width:238px;height:auto\" srcset=\"https:\/\/rijetke-bolesti.com\/wp-content\/uploads\/2026\/11\/Aicardi-Syndrome-Awareness.jpeg 447w, https:\/\/rijetke-bolesti.com\/wp-content\/uploads\/2026\/11\/Aicardi-Syndrome-Awareness-12x12.jpeg 12w, https:\/\/rijetke-bolesti.com\/wp-content\/uploads\/2026\/11\/Aicardi-Syndrome-Awareness-150x150.jpeg 150w, https:\/\/rijetke-bolesti.com\/wp-content\/uploads\/2026\/11\/Aicardi-Syndrome-Awareness-300x300.jpeg 300w\" sizes=\"auto, (max-width: 447px) 100vw, 447px\" \/><\/figure>\n<\/div>\n\n\n<p class=\"wp-block-paragraph\"><\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Aicardijev sindrom rijedak je neurolo\u0161ki poreme\u0107aj koji se gotovo isklju\u010divo javlja kod djevoj\u010dica. Karakteriziraju ga djelomi\u010dan ili potpun nedostatak strukture koja povezuje dvije mo\u017edane polutke (corpus callosum), promjene na mre\u017enici oka te epilepti\u010dki napadaji koji se naj\u010de\u0161\u0107e pojavljuju tijekom prve godine \u017eivota. Mogu\u0107e su i razli\u010dite razvojne te\u0161ko\u0107e, poreme\u0107aji vida i drugi neurolo\u0161ki simptomi. Te\u017eina simptoma razlikuje se od osobe do osobe.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><\/p>\n\n\n\n<p class=\"wp-block-paragraph\">9. studenoga \u2013 Nacionalni dan svjesnosti o mikrotiji i atreziji<\/p>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"alignleft size-full is-resized\"><img loading=\"lazy\" decoding=\"async\" width=\"398\" height=\"502\" src=\"https:\/\/rijetke-bolesti.com\/wp-content\/uploads\/2026\/11\/Microtia-and-Atresia-Awareness-1.jpeg\" alt=\"\" class=\"wp-image-6810\" style=\"aspect-ratio:0.79284691527112;width:178px;height:auto\" srcset=\"https:\/\/rijetke-bolesti.com\/wp-content\/uploads\/2026\/11\/Microtia-and-Atresia-Awareness-1.jpeg 398w, https:\/\/rijetke-bolesti.com\/wp-content\/uploads\/2026\/11\/Microtia-and-Atresia-Awareness-1-238x300.jpeg 238w, https:\/\/rijetke-bolesti.com\/wp-content\/uploads\/2026\/11\/Microtia-and-Atresia-Awareness-1-9x12.jpeg 9w\" sizes=\"auto, (max-width: 398px) 100vw, 398px\" \/><\/figure>\n<\/div>\n\n\n<p class=\"wp-block-paragraph\"><\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Mikrotija je rijetka priro\u0111ena anomalija kod koje je vanjsko uho nedovoljno razvijeno ili nepravilno oblikovano. Mo\u017ee zahvatiti jedno ili oba uha, a \u010desto se pojavljuje zajedno s atrezijom zvukovoda, odnosno njegovim djelomi\u010dnim ili potpunim nedostatkom. Zbog promjena u gra\u0111i uha mo\u017ee do\u0107i do o\u0161te\u0107enja sluha i pote\u0161ko\u0107a u razvoju govora. Pravodobna audiolo\u0161ka obrada, odgovaraju\u0107a rehabilitacija i individualizirani pristup va\u017eni su za razvoj i kvalitetu \u017eivota djece s ovom dijagnozom.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><\/p>\n\n\n\n<p class=\"wp-block-paragraph\">10. studenoga \u2013 Svjetski dan svjesnosti o neuroendokrinim tumorima (NET)<\/p>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"alignright size-full is-resized\"><img loading=\"lazy\" decoding=\"async\" width=\"538\" height=\"569\" src=\"https:\/\/rijetke-bolesti.com\/wp-content\/uploads\/2026\/11\/Neuroendocrine-Tumor-1.jpeg\" alt=\"\" class=\"wp-image-6812\" style=\"aspect-ratio:0.9455429230515736;width:173px;height:auto\" srcset=\"https:\/\/rijetke-bolesti.com\/wp-content\/uploads\/2026\/11\/Neuroendocrine-Tumor-1.jpeg 538w, https:\/\/rijetke-bolesti.com\/wp-content\/uploads\/2026\/11\/Neuroendocrine-Tumor-1-284x300.jpeg 284w, https:\/\/rijetke-bolesti.com\/wp-content\/uploads\/2026\/11\/Neuroendocrine-Tumor-1-11x12.jpeg 11w\" sizes=\"auto, (max-width: 538px) 100vw, 538px\" \/><\/figure>\n<\/div>\n\n\n<p class=\"wp-block-paragraph\">Neuroendokrini tumori (NET) rijetka su i heterogena skupina tumora koji nastaju iz neuroendokrinih stanica, prisutnih u razli\u010ditim dijelovima tijela. Naj\u010de\u0161\u0107e se pojavljuju u probavnom sustavu, gu\u0161tera\u010di i plu\u0107ima. Neki tumori mogu proizvoditi hormone i uzrokovati razli\u010dite simptome, poput crvenila lica, proljeva, bolova u trbuhu i promjena krvnog tlaka. Zbog nespecifi\u010dnih simptoma bolest se ponekad otkriva tek u uznapredovaloj fazi, \u0161to dodatno nagla\u0161ava va\u017enost podizanja svijesti i ranog prepoznavanja.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><\/p>\n\n\n\n<p class=\"wp-block-paragraph\">13. studenoga \u2013 Dan podizanja svijesti o Schinzel-Giedionovu sindromu<\/p>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"alignleft size-full is-resized\"><img loading=\"lazy\" decoding=\"async\" width=\"447\" height=\"447\" src=\"https:\/\/rijetke-bolesti.com\/wp-content\/uploads\/2026\/11\/Schinzel-Giedion-Syndrome.png\" alt=\"\" class=\"wp-image-6813\" style=\"width:169px;height:auto\" srcset=\"https:\/\/rijetke-bolesti.com\/wp-content\/uploads\/2026\/11\/Schinzel-Giedion-Syndrome.png 447w, https:\/\/rijetke-bolesti.com\/wp-content\/uploads\/2026\/11\/Schinzel-Giedion-Syndrome-150x150.png 150w, https:\/\/rijetke-bolesti.com\/wp-content\/uploads\/2026\/11\/Schinzel-Giedion-Syndrome-300x300.png 300w, https:\/\/rijetke-bolesti.com\/wp-content\/uploads\/2026\/11\/Schinzel-Giedion-Syndrome-12x12.png 12w\" sizes=\"auto, (max-width: 447px) 100vw, 447px\" \/><\/figure>\n<\/div>\n\n\n<p class=\"wp-block-paragraph\"><\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Schinzel-Giedionov sindrom iznimno je rijedak genetski poreme\u0107aj koji zahva\u0107a vi\u0161e organskih sustava. Obilje\u017eavaju ga karakteristi\u010dne crte lica, te\u0161ke razvojne te\u0161ko\u0107e, epilepti\u010dki napadaji te razli\u010dite priro\u0111ene anomalije, koje mogu zahvatiti bubrege, srce, kostur i druge organe. Kod oboljelih se mogu pojaviti i pote\u0161ko\u0107e s hranjenjem, disanjem, vidom i sluhom. Zbog slo\u017eenosti klini\u010dke slike potrebna je multidisciplinarna i kontinuirana zdravstvena skrb.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><\/p>\n\n\n\n<p class=\"wp-block-paragraph\">15. studenoga \u2013 Me\u0111unarodni dan 15q<\/p>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"alignright size-full is-resized\"><img loading=\"lazy\" decoding=\"async\" width=\"500\" height=\"500\" src=\"https:\/\/rijetke-bolesti.com\/wp-content\/uploads\/2026\/11\/International-15q-Day-1.png\" alt=\"\" class=\"wp-image-6816\" style=\"width:249px;height:auto\" srcset=\"https:\/\/rijetke-bolesti.com\/wp-content\/uploads\/2026\/11\/International-15q-Day-1.png 500w, https:\/\/rijetke-bolesti.com\/wp-content\/uploads\/2026\/11\/International-15q-Day-1-300x300.png 300w, https:\/\/rijetke-bolesti.com\/wp-content\/uploads\/2026\/11\/International-15q-Day-1-12x12.png 12w, https:\/\/rijetke-bolesti.com\/wp-content\/uploads\/2026\/11\/International-15q-Day-1-150x150.png 150w\" sizes=\"auto, (max-width: 500px) 100vw, 500px\" \/><\/figure>\n<\/div>\n\n\n<p class=\"wp-block-paragraph\">Me\u0111unarodni dan 15q posve\u0107en je podizanju svijesti o rijetkim genetskim poreme\u0107ajima povezanima s promjenama na dugom kraku 15. kromosoma. Me\u0111u njima su Prader-Willijev sindrom, Angelmanov sindrom i dup15q sindrom. Iako se razlikuju po svojim genetskim obilje\u017ejima i klini\u010dkoj slici, ovi poreme\u0107aji mogu uklju\u010divati razvojne i intelektualne te\u0161ko\u0107e, pote\u0161ko\u0107e u govoru, poreme\u0107aje hranjenja, epilepsiju i promjene u pona\u0161anju. Dan je prilika za promicanje razumijevanja, istra\u017eivanja i podr\u0161ke osobama koje \u017eive s ovim dijagnozama.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">16. studenoga \u2013 Svjetski dan svjesnosti o Sanfilippovu sindromu<\/p>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"alignleft size-full is-resized\"><img loading=\"lazy\" decoding=\"async\" width=\"447\" height=\"447\" src=\"https:\/\/rijetke-bolesti.com\/wp-content\/uploads\/2026\/11\/Sanfilippo-Syndrome.jpeg\" alt=\"\" class=\"wp-image-6815\" style=\"width:201px;height:auto\" srcset=\"https:\/\/rijetke-bolesti.com\/wp-content\/uploads\/2026\/11\/Sanfilippo-Syndrome.jpeg 447w, https:\/\/rijetke-bolesti.com\/wp-content\/uploads\/2026\/11\/Sanfilippo-Syndrome-150x150.jpeg 150w, https:\/\/rijetke-bolesti.com\/wp-content\/uploads\/2026\/11\/Sanfilippo-Syndrome-300x300.jpeg 300w, https:\/\/rijetke-bolesti.com\/wp-content\/uploads\/2026\/11\/Sanfilippo-Syndrome-12x12.jpeg 12w\" sizes=\"auto, (max-width: 447px) 100vw, 447px\" \/><\/figure>\n<\/div>\n\n\n<p class=\"wp-block-paragraph\"><\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Sanfilippov sindrom, poznat i kao mukopolisaharidoza tip III (MPS III), rijetka je nasljedna metaboli\u010dka bolest uzrokovana nedostatkom enzima potrebnih za razgradnju heparan-sulfata. Zbog toga dolazi do njegova nakupljanja u stanicama, \u0161to postupno o\u0161te\u0107uje \u017eiv\u010dani sustav. Bolest se naj\u010de\u0161\u0107e o\u010dituje u ranom djetinjstvu, kada se mogu pojaviti ka\u0161njenje u razvoju, pote\u0161ko\u0107e s govorom, promjene pona\u0161anja i poreme\u0107aji spavanja. S vremenom dolazi do progresivnog gubitka ranije ste\u010denih sposobnosti.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><\/p>\n\n\n\n<p class=\"wp-block-paragraph\">17. studenoga \u2013 Dan podizanja svijesti o Smith-Magenisovu sindromu (SMS)<\/p>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"alignright size-full is-resized\"><img loading=\"lazy\" decoding=\"async\" width=\"447\" height=\"447\" src=\"https:\/\/rijetke-bolesti.com\/wp-content\/uploads\/2026\/11\/Smith-Magenis-Syndrome.jpeg\" alt=\"\" class=\"wp-image-6817\" style=\"width:216px;height:auto\" srcset=\"https:\/\/rijetke-bolesti.com\/wp-content\/uploads\/2026\/11\/Smith-Magenis-Syndrome.jpeg 447w, https:\/\/rijetke-bolesti.com\/wp-content\/uploads\/2026\/11\/Smith-Magenis-Syndrome-12x12.jpeg 12w, https:\/\/rijetke-bolesti.com\/wp-content\/uploads\/2026\/11\/Smith-Magenis-Syndrome-150x150.jpeg 150w, https:\/\/rijetke-bolesti.com\/wp-content\/uploads\/2026\/11\/Smith-Magenis-Syndrome-300x300.jpeg 300w\" sizes=\"auto, (max-width: 447px) 100vw, 447px\" \/><\/figure>\n<\/div>\n\n\n<p class=\"wp-block-paragraph\"><\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Smith-Magenisov sindrom rijedak je genetski poreme\u0107aj koji naj\u010de\u0161\u0107e nastaje zbog nedostatka dijela genetskog materijala na kromosomu 17 ili promjene u genu RAI1. Obilje\u017eavaju ga razvojne i intelektualne te\u0161ko\u0107e, ka\u0161njenje u razvoju govora, karakteristi\u010dne crte lica te poreme\u0107aji pona\u0161anja i spavanja. Osobe sa sindromom \u010desto imaju poreme\u0107en ritam spavanja, \u0161to mo\u017ee utjecati na njihovo svakodnevno funkcioniranje i kvalitetu \u017eivota cijele obitelji.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><\/p>\n\n\n\n<p class=\"wp-block-paragraph\">22. studenoga \u2013 Dan svjesnosti o Emanuelovu sindromu<\/p>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"alignleft size-full is-resized\"><img loading=\"lazy\" decoding=\"async\" width=\"300\" height=\"300\" src=\"https:\/\/rijetke-bolesti.com\/wp-content\/uploads\/2026\/11\/Emanuel-Syndrome.jpeg\" alt=\"\" class=\"wp-image-6818\" style=\"width:191px;height:auto\" srcset=\"https:\/\/rijetke-bolesti.com\/wp-content\/uploads\/2026\/11\/Emanuel-Syndrome.jpeg 300w, https:\/\/rijetke-bolesti.com\/wp-content\/uploads\/2026\/11\/Emanuel-Syndrome-150x150.jpeg 150w, https:\/\/rijetke-bolesti.com\/wp-content\/uploads\/2026\/11\/Emanuel-Syndrome-12x12.jpeg 12w\" sizes=\"auto, (max-width: 300px) 100vw, 300px\" \/><\/figure>\n<\/div>\n\n\n<p class=\"wp-block-paragraph\">Emanuelov sindrom rijedak je kromosomski poreme\u0107aj uzrokovan prisutno\u0161\u0107u dodatnog kromosomskog materijala koji nastaje zbog neuravnote\u017eene translokacije izme\u0111u kromosoma 11 i 22. Sindrom mo\u017ee uzrokovati razvojne i intelektualne te\u0161ko\u0107e, karakteristi\u010dne crte lica, smanjen mi\u0161i\u0107ni tonus te priro\u0111ene anomalije srca, bubrega i drugih organa. Te\u017eina simptoma razlikuje se me\u0111u oboljelima, a potrebna je individualizirana i multidisciplinarna skrb.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><\/p>","protected":false},"excerpt":{"rendered":"<p>Studeni je mjesec u kojem se obilje\u017eavaju brojni dani posve\u0107eni podizanju svijesti o rijetkim bolestima. Ova obilje\u017eavanja prilika su za informiranje javnosti o rijetkim dijagnozama, njihovim simptomima i izazovima s kojima se svakodnevno suo\u010davaju oboljeli i njihove obitelji. Pravodobno prepoznavanje simptoma, rana dijagnostika i odgovaraju\u0107a&#8230;<\/p>","protected":false},"author":3,"featured_media":0,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"content-type":"","footnotes":""},"categories":[1],"tags":[],"class_list":["post-6803","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v26.0 - https:\/\/yoast.com\/wordpress\/plugins\/seo\/ -->\n<title>Mjesec svjesnosti o rijetkim dijagnozama \u2013\u00a0studeni - Hrvatski savez za rijetke bolesti<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/rijetke-bolesti.com\/en\/mjesec-svjesnosti-o-rijetkim-dijagnozama-studeni\/\" \/>\n<meta property=\"og:locale\" content=\"en_GB\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Mjesec svjesnosti o rijetkim dijagnozama \u2013\u00a0studeni - Hrvatski savez za rijetke bolesti\" \/>\n<meta property=\"og:description\" content=\"Studeni je mjesec u kojem se obilje\u017eavaju brojni dani posve\u0107eni podizanju svijesti o rijetkim bolestima. Ova obilje\u017eavanja prilika su za informiranje javnosti o rijetkim dijagnozama, njihovim simptomima i izazovima s kojima se svakodnevno suo\u010davaju oboljeli i njihove obitelji. 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