Yini i-Tetra-amelia syndrome nokuthi kungani kwenzeka

-Delile

• Izimpawu eziyinhloko
• Ukhakhayi nobuso
• Inhliziyo namaphaphu
• Izitho zangasese nepheshana lomchamo
• Amathambo
• Kungani kwenzeka lesi sifo
• Yelashwa kanjani

I-Tetra-amelia syndrome yisifo esingavamile kakhulu sezakhi zofuzo esidala ukuthi ingane izalwe ngaphandle kwezingalo nemilenze, futhi singadala nokunye ukukhubazeka emathanjeni, ebusweni, ekhanda, enhliziyweni, emaphashini, kohlelo lwemizwa noma esifundeni sangasese.

Lokhu kuguqulwa kwezakhi zofuzo kungatholakala ngisho nangesikhathi sokukhulelwa, ngakho-ke, ngokuya ngobunzima bezinkinga ezikhona, udokotela obelethisayo angancoma ukuthi akhiphe isisu, ngoba okuningi kwalokhu kukhubazeka kungasongela impilo ngemuva kokuzalwa.

Yize lungekho ikhambi, kunezimo ezithile lapho ingane izalwa khona kuphela ngaphandle kwezitho ezine noma inokukhubazeka okuncane futhi, ezimweni ezinjalo, kungenzeka ukugcina impilo eyanele.

Izimpawu eziyinhloko

Ngaphezu kokungabikho kwemilenze nezingalo, i-Tetra-amelia syndrome ingadala ezinye izinkinga eziningi ezingxenyeni ezihlukene zomzimba njenge:

Ukhakhayi nobuso

• Izimpophoma;
• Amehlo amancane kakhulu;
• Izindlebe eziphansi kakhulu noma ezingekho;
• Ekhaleni kwesokunxele kakhulu noma engekho;
• Ulwanga olucwengile noma udebe oluqhekezayo.

Inhliziyo namaphaphu

• Ukunciphisa usayizi wamaphaphu;
• Izinguquko ze-diaphragm;
• Ama-ventricles enhliziyo awahlukanisiwe;
• Nciphisa uhlangothi olulodwa lwenhliziyo.

Izitho zangasese nepheshana lomchamo

• Ukungabi khona kwesinso;
• Amaqanda angathuthukisiwe;
• Ukungabi khona kwe-anus, urethra noma isitho sangasese sowesifazane;
• Ubukhona be-orifice ngaphansi kwepenisi;
• Izitho zangasese ezingakhuli kahle.

Amathambo

• Ukungabi khona kwama-vertebrae;
• Amathambo esinqe amancane noma engekho;
• Ukungabikho kwezimbambo.

Esimweni ngasinye, ukukhubazeka okuveziwe kuhlukile futhi, ngakho-ke, isilinganiso sobude bempilo kanye nengozi empilweni kuyahluka kuye ngomntwana ngamunye.

Kodwa-ke, abantu abathintekile emndenini owodwa bavame ukuba nokukhubazeka okufanayo.

Kungani kwenzeka lesi sifo

Akunasizathu esithile kuwo wonke amacala we-Tetra-amelia syndrome, kodwa-ke, kunamacala amaningi lapho lesi sifo sivela khona ngokuguquka kwesakhi sofuzo se-WNT3.

Uhlobo lwe-WNT3 lubhekele ukukhiqiza iprotheni ebalulekile yokuthuthukiswa kwezitho zomzimba nezinye izinhlelo zomzimba ngesikhathi sokukhulelwa. Ngakho-ke, uma ushintsho lwenzeka kulesakhi, amaprotheni awakhiqizwa, okuholela ekungabikho kwezingalo nemilenze, kanye nokunye ukungahambi kahle okuhlobene nokuntuleka kwentuthuko.

Yelashwa kanjani

Akukho ukwelashwa okuqondile kweTetra-amelia syndrome, futhi ezimweni eziningi, ingane ayiphili ngaphezu kwezinsuku noma izinyanga ezimbalwa izelwe ngenxa yokukhubazeka okuthikameza ukukhula nokuthuthuka kwayo.

Kodwa-ke, ezimweni lapho ingane isinda khona, ukwelashwa kuvame ukufaka ukuhlinzwa ukulungisa okunye ukungahambi kahle okulethwe futhi kuthuthukiswe ikhwalithi yempilo. Ngokungabikho kwemilenze, izihlalo ezinamasondo ezikhethekile zivame ukusetshenziswa, zihanjiswe ngokuhamba kwekhanda, umlomo noma ulimi, ngokwesibonelo.

Cishe kuzo zonke izimo, usizo lwabanye abantu luyadingeka ukwenza imisebenzi yempilo yansuku zonke, kepha ezinye izingqinamba nezithiyo zinganqotshwa ngezikhathi zokwelashwa emsebenzini, futhi kukhona ngisho nabantu abane-syndrome abangazimela bodwa ngaphandle kokusebenzisa wesihlalo esinamasondo.