I-stickler syndrome yisimo esingavamile sokuzalwa noma isifo sokuzalwa kwesithwathwa esithinta izicubu ezixhumene emzimbeni. Ngokuqondile, abantu abane-Stickler syndrome ngokuvamile banokushintshashintsha kwezakhi zofuzo ezikhiqiza i-collagen. Lezi zakhi zofuzo zingabangela ezinye noma zonke izici ezilandelayo ze-Stickler syndrome:
- Izinkinga zamehlo - kubandakanya ukungaboni kahle, ukuguqulwa kwamagciwane, i- glaucoma , i- cataracts , nezimbobo ze-retinal noma i-detachment. Kwezinye izimo, izinkinga zamehlo ezihambisana ne-Stickler Syndrome zingaholela ekumpumputhe.
- Ukungahambi kahle endlebeni ephakathi okungaholela ekulahlekelweni kwezindlebe ezixutshwe, ezizwakalayo noma ezihamba phambili , izikhwebu eziphindaphindiwe izifo , uketshezi ezindlebeni noma ukuhamba kwamathambo endlebe.
- Izifo ezingekho emthethweni ezibandakanya umgogodla (i-scoliosis noma i-kyphosis), ama-hyper-mobile, ama-arthritis aqala ukuqala, ukukhubazeka kwesifuba, ukuphazamiseka kwesibindi sokubantwana (okuthiwa i-Legg-Calve-Perthe's disease), nezinkinga ezihlangene ezihlanganisiwe.
- Abantu abathile abane-Stickler syndrome bangase babe nesimo esiphezulu se-mitral valve prolapse kunabantu abaningi, ngokusho kocwaningo oluthile.
- Amazinyo okungahambi kahle afaka phakathi indawo.
- Ukubukeka kwesobuso obucwebekile ngezinye izikhathi kubhekiswa njengokulandelana kukaPierre Robin. Lokhu kuvame ukubandakanya izici ezifana ne- palate ye-cleft , i-bifid uvula, i-palate ephakeme kakhulu, ulimi oluphindaphindiwe kunokujwayelekile, i-chinese elincishisiwe, nomhlathi omncane ophansi. Ngokuya ngobukhulu bezici zobuso (okuhlukahluka kakhulu phakathi kwabantu), lezi zimo zingaholela ezinkingeni zokudla, ikakhulukazi ngesikhathi sokusana.
- Ezinye izici zingabandakanya hypertonia , izinyawo eziphansi, neminwe ende.
I-stickler syndrome ifana kakhulu nesimo esihlobene nesibizwa ngokuthi i-Marshall syndrome, nakuba abantu abane-Marshall syndrome bevame ukuba nesigamu esifushane ngaphezu kwezimpawu eziningi ze-Stickler syndrome. I-stickler syndrome ihlukaniswe yaba yizinhlobo ezinhlanu ezincike kuye ngokuthi yiziphi izimpawu ezibalulwe ngaphambili.
Izimpawu nobuqili zihluka kakhulu phakathi kwabantu abane-Stickler syndrome ngisho nasemindenini efanayo.
Izimbangela
Isigameko se-Stickler syndrome kulinganiselwa ukuthi sibalelwa ku-1 kwabangu-7 500 ukuzalwa. Kodwa-ke, lesi simo sikholelwa ukuthi singatholakali. I-stickler syndrome idluliselwa kusuka kubazali kuya ezinganeni ngendlela ehamba phambili ye-autosomal. Ingozi yomzali nge-Stickler syndrome ukudlulisa isimo kumntwana ngamaphesenti angu-50 ukukhulelwa ngamunye. I-stickler syndrome kwenzeka kubo bobabili abesilisa nabesifazane.
Ukuxilongwa
I-stickler syndrome ingase ifakale uma unezici noma izimpawu zalesi sifo, ikakhulukazi uma othile emndenini wakho etholakele ukuthi une-Stickler syndrome. Ukuhlolwa kofuzo kungasiza ekuhloleni i-Stickler syndrome kodwa okwamanje akukho imigomo ejwayelekile yokuxilongwa eshiwo umphakathi wezokwelapha.
Ukwelapha
Ayikho ikhambi ye-Stickler syndrome kodwa kunezokwelapha eziningi nezinqubo zokwelapha ezikhona zokuphatha izimpawu ze-Stickler syndrome. Ukuqashelwa kuqala noma ukuxilongwa kwe-Stickler syndrome kubalulekile ukuze izimo ezihambisanayo zihlolwe futhi ziphathwe ngokushesha. Ukulungiswa kokuhlinzwa kokukhubazeka ebusweni njengokwenza i-cleft palate kungadingeka ukusiza ngokudla nokuphefumula.
Amalensi noma ukuhlinzeka okulungiswayo kungaba usizo ekuphatheni izinkinga zamehlo. Izinsiza zokuzwa noma izinqubo zokuhlinza ezifana nokubekwa kwamatayipi okuphuza umoya angalungisa noma aphathe izinkinga zendlebe. Ngezinye izikhathi imithi elwa nokuvuvukala ingaba usizo ekwelapheni i-arthritis noma izinkinga ezihlangene, ezimweni ezinzima ukufakwa esikhundleni kwamalungu kungadingeka.
Imithombo:
I-Genetics Home Reference. Stickler Syndrome. https://ghr.nlm.nih.gov/condition/stickler-syndrome
I-Marfan Foundation. Stickler Syndrome. https://www.marfan.org/stickler-syndrome.
Inhlangano Kazwelonke Yezinkinga Ezinzima. Stickler Syndrome. http://rarediseases.org/rare-diseases/stickler-syndrome/.