Yini i-Weaver's syndrome nokuthi ungayelapha kanjani

-Delile

• Izimpawu eziyinhloko
• Yini ebangela lesi sifo
• Yelashwa kanjani

I-Weaver's syndrome yisimo sezakhi zofuzo esingajwayelekile lapho ingane ikhula khona ngokushesha okukhulu ngesikhathi sobuntwana, kepha ibambezeleka ekukhuleni kobuhlakani, ngaphezu kokuba nezici zobuso, njengesiphongo esikhulu namehlo abanzi kakhulu, ngokwesibonelo.

Kwezinye izimo, ezinye izingane zingaphinde zibe nokukhubazeka kwamalunga nomgogodla, kanye nemisipha ebuthakathaka nesikhumba se-flabby.

Alikho ikhambi le-Weaver's syndrome, kodwa-ke, ukulandelwa udokotela wezingane nokwelashwa okujwayele izimpawu kungasiza ekuthuthukiseni ikhwalithi yempilo yengane nabazali.

Izimpawu eziyinhloko

Esinye sezici eziyinhloko ze-Weaver's syndrome ukuthi ikhula ngokushesha kunokujwayelekile, yingakho isisindo nokuphakama cishe kuhlala kuma-percentile aphezulu kakhulu.

Noma kunjalo ezinye izimpawu nezici zifaka:

• Amandla amancane emisipha;
• Imicabango eyeqisayo;
• Ukubambezeleka ekwakhiweni kweminyakazo yokuzithandela, efana nokubamba into;
• Ukukhala okuphansi, okuhoshozelayo;
• Amehlo aqhelelene;
• Isikhumba eseqile ekhoneni leso;
• Intamo eyisicaba;
• Ibunzi elibanzi;
• Izindlebe ezinkulu kakhulu;
• Ukukhubazeka kwezinyawo;
• Iminwe ivaliwe njalo.

Ezinye zalezi zimpawu zingabonakala ngemuva nje kokuzalwa, kanti ezinye zikhonjwa ezinyangeni ezimbalwa zokuqala zokuphila ngesikhathi sokubonisana nodokotela wezingane, ngokwesibonelo. Ngakho-ke, kunezimo lapho lesi sifo sibonakala kuphela ezinyangeni ezimbalwa ngemuva kokuzalwa.

Ngaphezu kwalokho, uhlobo nobukhulu bezimpawu bungahluka kuye ngezinga le-syndrome futhi, ngakho-ke, kwezinye izimo kungahle kunganakwa.

Yini ebangela lesi sifo

Isizathu esithile sokuvela kwe-Weaver's syndrome asikaziwa, kepha kungenzeka ukuthi kungenzeka ngenxa yokuguquka kwesakhi sofuzo ku-EZH2, obhekele ukwenza amanye amakhophi e-DNA.

Ngakho-ke, ukuxilongwa kwe-syndrome kaningi kungenziwa ngokuhlolwa kofuzo, ngaphezu kokubuka izici.

Kukhona nokusola ukuthi lesi sifo singadlulela kumama siye ezinganeni, ngakho-ke kuyanconywa ukuthi kwenziwe ukwelulekwa ngezakhi zofuzo uma kunesimo esithile se-syndrome emndenini.

Yelashwa kanjani

Akukho ukwelashwa okuqondile kwe-Weaver's syndrome, noma kunjalo, amasu amaningi angasetshenziswa ngokuya ngezimpawu nezimpawu zengane ngayinye. Enye yezinhlobo zokwelashwa ezisetshenziswa kakhulu yi-physiotherapy ukulungisa ukukhubazeka ezinyaweni, isibonelo.

Izingane ezinalesi sifo nazo zibonakala zisengozini enkulu yokuthola umdlavuza, ikakhulukazi i-neuroblastoma, ngakho-ke kuyalulekwa ukuthi uvakashele njalo udokotela wezingane ukuze uhlole ukuthi zikhona yini izimpawu, njengokulahlekelwa isifiso sokudla noma ukubambeka, okungakhombisa ukuthi isimila sokuba khona, ukuqala ukwelashwa ngokushesha okukhulu. Funda kabanzi nge-neuroblastoma.