Yintoni i-Tetra-amelia syndrome kwaye kutheni isenzeka

Umxholo

• Iimpawu eziphambili
• Ukhakhayi nobuso
• Intliziyo nemiphunga
• Ilungu lesini kunye nomchamo
• Amathambo
• Kutheni le nto isifo senzeka
• Unyango lwenziwa njani

I-Tetra-amelia syndrome sisifo esinqabileyo semfuzo esibangela ukuba umntwana azalwe engenazo iingalo kunye nemilenze, kwaye inokubangela ezinye iingxaki kumathambo, ebusweni, entloko, entliziyweni, emiphungeni, kwinkqubo yemithambo-luvo okanye kummandla wesondo.

Olu tshintsho lwemfuza lunokuchongwa nangexesha lokukhulelwa kwaye, ke ngoko, kuxhomekeke kubukrakra beziphene ezichongiweyo, ugqirha wokubelekisa angacebisa ukukhupha isisu, njengoko uninzi lwezi zinto zingalunganga zinokubusongela ubomi emva kokuzalwa.

Nangona kungekho lunyango, kukho iimeko ezithile apho umntwana azalwa khona kuphela ngaphandle kwemilenze emine okanye ukungalunganga kancinci kwaye, kwiimeko ezinjalo, kunokwenzeka ukugcina umgangatho wobomi oboneleyo.

Iimpawu eziphambili

Ukongeza ukungabikho kwemilenze kunye neengalo, i-Tetra-amelia syndrome inokubangela ezinye iingxaki ezininzi kwiindawo ezahlukeneyo zomzimba ezifana:

Ukhakhayi nobuso

• Iingxangxasi;
• Amehlo amancinci kakhulu;
• Iindlebe eziphantsi kakhulu okanye ezingekhoyo;
• Impumlo ishiyeke kakhulu okanye ingekhoyo;
• Inkalakahla ecwengileyo okanye umlomo ocacileyo.

Intliziyo nemiphunga

• Ukunciphisa ubungakanani bemiphunga;
• Utshintsho kwisithsaba;
• Ii-ventricles zentliziyo azihlukaniswanga;
• Ukuncipha kwelinye icala lentliziyo.

Ilungu lesini kunye nomchamo

• Ukungabikho kwezintso;
• Ii-ovari ezingaphuhliswanga;
• Ukungabikho kwe-anus, urethra okanye ubufazi;
• Ubukho be-orifice phantsi kwepenisi;
• Izitho zangasese eziphucukileyo.

Amathambo

• Ukungabikho kwamathambo omqolo;
• Amathambo esinqe amancinci okanye angekhoyo;
• Ukungabikho kweembambo.

Kwimeko nganye, ukungalunganga okubekiweyo kwahlukile kwaye, ke ngoko, ubude bokuphila kunye nomngcipheko wobomi buyahluka ukusuka komnye umntwana ukuya komnye.

Nangona kunjalo, abantu abachaphazelekayo kusapho olunye bahlala benesiphene esifanayo.

Kutheni le nto isifo senzeka

Okwangoku akukho sizathu sinye kuwo onke amatyala eTetra-amelia syndrome, nangona kunjalo, zininzi iimeko apho esi sifo sivela khona ngenxa yokutshintsha kohlobo lwe-WNT3.

Uhlobo lwe-WNT3 linoxanduva lokuvelisa iprotein ebalulekileyo kuphuhliso lwamalungu omzimba kunye nezinye iinkqubo zomzimba ngexesha lokukhulelwa. Ke, ukuba utshintsho lukhona kule geni, iprotein ayiveliswa, ikhokelela ekungabikho kweengalo nemilenze, kunye nokunye ukungalunganga okunxulumene nokusilela kophuhliso.

Unyango lwenziwa njani

Akukho lunyango oluthile lweTetra-amelia syndrome, kwaye kwimeko ezininzi, umntwana akaphili ngaphezulu kweentsuku okanye iinyanga ezimbalwa emva kokuzalwa ngenxa yokungalunganga okuthintela ukukhula kunye nokukhula kwakhe.

Nangona kunjalo, kwiimeko apho umntwana asindayo, unyango luhlala lubandakanya utyando ukulungisa ezinye zeempazamo ezibekiweyo kunye nokuphucula umgangatho wobomi. Ukungabikho kwamalungu, izihlalo ezinamavili ezizodwa zihlala zisetyenziswa, zihanjiswa ngokuhamba kwentloko, umlomo okanye ulwimi, umzekelo.

Phantse kuwo onke amatyala, uncedo lwabanye abantu luyimfuneko ekwenzeni imisebenzi yemihla ngemihla yobomi, kodwa ezinye iingxaki kunye nezithintelo zinokoyiswa ngeeseshoni zonyango emsebenzini, kwaye kukho nabantu abanesifo abanokuhamba bodwa ngaphandle kokusebenzisa Isitulo esinamavili.