Iimpawu, Ukuxilongwa, kunye noTyango
I-Jarcho-Levin syndrome yintsilelo yokuzalwa ngokwemfuyo eyenza amathambo angalunganga emgodini (vertebrae) kunye neembambo. Iintsana ezizalwe nge-Jarcho-Levin syndrome zinemiva emifutshane, ukunyakaza kwentamo emncinci, ubukhulu obufutshane kunye nokuphefumula, ngenxa yezinto ezincinci ezinobungozi obubonakalayo.
I-Jarcho-Levin syndrome ifikelele kwiifom ezi-2 ezizuzwa njengezixhobo eziphathekayo zofuzo kwaye zibizwa ngokuthi:
- I-Spondylocostal Dysostosis uhlobo 1 (SCDO1)
- Uhlobo lwe-Spondylocostal Dyostosis 2 (SCDO2) (eli fomu lilukhuni kune-SCDO1, kuba akuyiyo yonke i-vertebrae echaphazelekayo)
Kukho elinye iqela leengxaki ezifanayo ezibizwa ngokuba yi-spondylocostal dysostoses (kungekhona njengobunzima njengeJarcho-Levin syndrome) ezibonakalayo nangomlenze ongenalutho kunye namathambo.
I-Jarcho-Levin syndrome ayinqabile kwaye ichaphazela abesilisa nabesifazane. Akwaziwa ngokuthe ngqo ukuba kwenzeka kaninzi kangakanani kodwa kubonakala ngathi kukho iziganeko eziphezulu kubantu baseSpanish.
Iimpawu
Ukongezelela kwezinye zeempawu ezikhankanywe kwisingeniso, ezinye iimpawu ze-Jarcho-Levin syndrome zingabandakanya:
- Amathambo angalunganga emilanjeni (umgudu), njengamathambo afakwe
- Amathambo omgudu ongekho emlonyeni enza ukuba umgudu uphawule ngaphandle ( kyphosis ), ngaphakathi (lordosis), okanye kwicala (i- scoliosis )
- Amathambo omlomo ongekho emthethweni kunye nemigangatho engavamile yenza i-torso encinci kwaye ibangele ubungqina obufutshane obuphantse bufana
- Ezinye zeembambo zihlanganisene kunye kunye nezinye zibi, zinika isifuba ukubonakala njengenkuni
- Intamo imfutshane kwaye inomlinganiselo omncinci wokunyakaza
- Iimpawu zobuso eziqhelekileyo kunye nokusilela kwengqondo ngokuthe ngandlela-thile kunokwenzeka ngezinye izikhathi
- Izisiphako zokuzalwa zingasichaphazela inkqubo ye-nervous central, i-genitals, kunye nenkqubo yokuzala, okanye intliziyo
- Isibilini esingenasifo esincinci esincinci kwimiphunga yengane (ngokukodwa njengoko imiphunga ikhula) inokubangela izifo eziphindaphindiweyo kunye ezinzulu zemiphunga (umphunga).
- I-Webbed (i-syndactyly), iminwelwe kunye neenjongo ezihlala zihlala zihlala zihlala ziqhelekileyo
- Ubuninzi obubanzi, ibhuloho ebanzi ephakamileyo, amaqoma ahamba phambili, iinkophe ezinyuse phezulu, kunye nekhayi
- Ukuphazamiseka kwesibindi kungabangela ukuba isisu esiswini sibe nesisu
- Amathambo angaphendulwanga, i-genitalia yangaphandle, i-uterus ephindwe kabini, ivuliwe okanye ingabikho evulekileyo kunye nokuvuleka kwesibhanyi, okanye umnye umzobo ongumnye unempawu ezingabonakala
Ukuxilongwa
I-Jarcho-Levin syndrome ngokuqhelekileyo ifunyanwe kwiintsana ezisandul 'ukuzalwa esekelwe kubonakala komntwana kunye nokungabikho kokungaqhelekanga kwintlambo, emva nasesifuba. Ngamanye amaxesha ukuhlolwa kwe-ultrasound kokubeletha kunokubonakalisa amathambo angalunganga. Nangona kuyaziwa ukuba i-Jarcho-Levin syndrome idibaniswa nokuguqulwa kwimizimba ye-DLL3, akukho mvavanyo ekhethekileyo yofuzo efumanekayo yokuxilongwa.
Unyango
Iintsana ezizalwe nge-Jarcho-Levin syndrome zinzima ukuphefumula ngenxa yamabhokisi abo amancinci, kwaye ngenxa yoko zithandana nezifo zokuphefumula ( isibindi ).
Njengoko usana lukhula, isifuba sincinane kakhulu ukuba singene kwimiphunga ekhulayo, kwaye kunzima umntwana ukuba aphile ngaphaya kweminyaka engama-2. Unyango luvame ukubandakanywa ngononophelo olunzulu lwezonyango, kubandakanya unyango lwezifo zokuphefumula kunye nokuhlinzwa kwethambo.
Imithombo:
I-National Organisation for Distress Disorders. Jarcho Levin Syndrome.
I-Beine, O., J. Bolland, A. Verloes, FR Lebrun, J. Khamis, & Ch. Muller. "I-Spondylocostal dysostosis: Isifo esingaqhelekanga sesifo." Rev Med Liege 59 (2004): 513-516.
Takikawa, K., N. Haga, T. Maruyama, A. Nakatomi, T. Kondoh, Y. Makia, A. K., H. Kawabata, & S. Ikegawa. "Uxinzelele kwaye ubambe intambo engaqhelekanga kunye nesigxina kwi-spondylocostal dysostosis." Isiqendu 31 (2006): E192-197.