El Isifo seKabuki sisifo esinqabileyo ekunokwenzeka ukuba zibangelwe yimfuza. Abantwana abaphethwe yiyo baneengxaki ezahlukeneyo zomzimba nezengqondo, ezinye zazo siza kuthi sizichaze kweli nqaku.
Abantwana abachaphazeleka yi-Kabuki syndrome abanalo ixesha elifutshane lobomi kunokuba kuthathwa njengesiqhelo. Uninzi lweengxaki zonyango abanazo zinokusonjululwa ngotyando. Olunye lweempawu ezinzima neziyingozi zesi sifo kukutshintsha kwe-viscera. Kuqheleke kakhulu kubo ukuba neengxaki ezinzulu ze-coronary kunye neentliziyo.
Yintoni isifo seKabuki?
El isifo se-kabuki Yiyo ukugula okungaqhelekanga ebangela ukuba abo bathwaxwa yiyo uthotho lweempawu zomzimba ezahlukileyo. Le syndrome kukholelwa Ilifa elivela kuhlobo olubalaseleyo okanye ukusuka kuhlobo lokudibanisa olunxibelelene ne-X chromosome, kodwa unobangela wayo awukacaci ncam.
Ngaba kuthathwa njengesifo esinqabileyo. Akukho ndlela icacileyo yokufumanisa isifo esi sifo. Inyaniso yokuba kukho okuthe kratya bambalwa abantu abadala abaziwayo abanesi sifo inokuba kungenxa yokuba esi sifo sisandula ukufunyanwa. Kwafunyanwa ngo-1980 eJapan nango-1990 eYurophu naseMelika.
Kwelinye icala, singathetha ngothotho lwe iimpawu zomzimba eziqhelekileyo, ngakumbi ubuso, kunye nokukhubazeka okuthile kwengqondo, njengokulibaziseka kophuhliso. Kukwakho notshintsho eminweni, ubukho benguquko kwimisipha kunye nesifo sentliziyo.
Iimpawu
Njengoko besitshilo, amakhwenkwe kunye namantombazana ane-Kabuki syndrome bane iimpawu zobuso. Ezinye zazo zezi:
- Ubukho bokuphambuka kwendawo yesithathu esezantsi yejwabu leso elisezantsi, ukuvulwa komva kwe iinkophe ezinde, ifana ne-ocular physiognomy yabantu baseMpuma.
- Ibhulorho ebanzi yeempumlo kwaye yalatha ngaphakathi, enkulu, ephethe iindlebe ezimile kunye namashiya ashinyeneyo, arched.
La makhwenkwe namantombazana ahlala ekhona Ukunqongophala kunye nokufutshane. Banokutshintsha kwamathambo kunye nobukho beempawu zeminwe, ukungahambi kakuhle kunye nokuqina okanye utshintsho lomqolo. Ubuthathaka bemisipha yinto eqhelekileyo, kwaye ngamanye amaxesha bafuna isitulo esinamavili ukuze bajikeleze. Ngapha koko, aba bantwana bafuna unyango lomzimba. Obu buchule buluncedo olukhulu ekuphuculeni izakhono zakho zeemoto kunye nokomeleza inkqubo yemisipha.
Amakhwenkwe kunye namantombazana ane-Kabuki syndrome nawo aneqondo eliphakathi ukuya kwaphakathi ukukhubazeka kwengqondo, uninzi lwazo olunempawu ze-autistic. Kule nto kufuneka kongezwe, kwezinye iimeko, iingxaki zemithambo-luvo ezinje nge-atrophy ethile okanye i-microcephaly. Iingxaki ezibonakalayo kunye nokuva zixhaphakile, kwaye ngamanye amaxesha ukuxhuzula, ngokubanjwa okubonakalayo kokuxhuzula. Kodwa zonke ezi ngxaki akufuneki zibenzima, ezinye ziphakathi.
Unyango lwe-Kabuki syndrome
Njani isifo seKabuki isifo sokuzalwa Kungabikho lwazi lungako, unyango lwayo luyinkimbinkimbi. Oku kugxile ekuphuculeni umgangatho wobomi besigulana kunye nokunyanga iimpawu. Akukho lunyango yaziwa.
Kwisifundo sokukhubazeka kwengqondo, amakhwenkwe kunye namantombazana ane-Kabuki syndrome bafumana imfundo ehlengahlengisiweyo kwiimfuno zakho. Inkqubo ye- ukulibaziseka kolwimi, kuhlala kukho ukulibaziseka kwintetho, okunyanzeliswa sisandi esiphantsi semisipha, amanqaku angaqhelekanga, anokunyangwa ngoncedo lonyango lomsebenzi.
Kusenokufuneka ukusetyenziswa kotyando olwahlukeneyo, kuba utshintsho olwenzeka emzimbeni olunokubangela umngcipheko wokuphila kwabo luhlala luhlala, njengokutshintsha kwentliziyo kunye nenkqubo yentliziyo, inkqubo yokuphefumla, indlela yokugaya kunye nomlomo.
Njengonyango lwengqondo, kunokuba yimfuneko ukunyanga ukuphazamiseka kwengqondo okunokuvela kwaba bantwana, kodwa ngaphezulu kwako konke ukubonelela ngolwazi kunye nenkxaso kumalungu osapho. Inyaniso eSpain kukho umbutho wezihlobo, eyasekwa ngenjongo yokuba yindawo ekubhekiswa kuyo kwezi ntsapho. Ukongeza ekubeni sisixhobo sokuhambisa ukuze sisebenzisane ekwaziseni isifo seKabuki kunye nokuyibona.