Ðe dɔléle sia si mebɔ o la le viwò suea ŋua? Mina míaƒo nu tso Kabuki Dɔlélea ŋu

Èse Kabuki Dɔlélea ŋu nya kpɔa? Ðewohĩ menye nenemae o. Elabena enye domenyiŋusẽfianu ƒe nɔnɔme si mebɔ o. Gake ele vevie be nànyae, vevietɔ ne dzilae nènye. Kpuie ko la, nɔnɔme sia ate ŋu agblẽ nu le viwòa ƒe ŋutilã ƒe akpa vovovo geɖe ŋu. Zi geɖe la, ɖevi siawo ƒe mo ƒe dzedzeme ɖe dzesi, woƒe ƒunukpeƒewo trɔna vie, woƒe susu ƒe tsitsi tsi megbe vie, eye woƒe tsitsimekuxiwo nɔa wo dzidzi megbe. Gake menye ɖevi ɖesiaɖee dzesi siawo dzena le o, eye nɔnɔmea ƒe sesẽme ate ŋu ato vovo tso ame ɖeka gbɔ yi bubu gbɔ. Mina míaƒo nu tso esia ŋu tsitotsito vie, alo?

Aleke ŋkɔ "Kabuki" va dzɔ?

Esia hã nye ŋutinya dodzidzɔname aɖe ŋutɔ. Le ƒe 1981 me la, Japantɔ dzɔdzɔmeŋutinunyala eve ke ɖe dɔléle sia si woyɔna be Kabuki Syndrome ŋu zi gbãtɔ. Wo dometɔ ɖeka tsɔ ŋkɔ nɛ be "Kabuki Makeup Syndrome". Nusitae nye be ɖevi geɖe siwo ŋu nɔnɔme sia le ƒe mo ƒe dzedzeme ɖi fefewɔla siwo le "Kabuki" fefewo, si nye Japantɔwo ƒe fefewɔƒe ƒe aɖaŋudɔ si wowɔna le kɔnu nu me. Bu eŋu kpɔ, alesi fefewɔlawo doa woƒe ŋkume kple woƒe ŋkuwo ƒe nɔnɔme sɔ kple ɖevi siawo ƒe mo. Gake emegbe la, dzɔdzɔmeŋutinunyalawo ɖe nya "makeup" ɖa eye wodze ŋkɔ "Kabuki Syndrome" zazã gɔme. Ɣeaɖewoɣi la, àte ŋu ase nɔnɔme sia hã si woyɔna be `Kabuki dɔléle`, `KMS` alo `Niikawa-Kuroki ƒe dɔléle`.

Nukawoe nye Kabuki ƒe dɔlélea ƒe dzesiwo?

Togbɔ be Kabuki ƒe dɔlélea nye dɔléle si wodzina hã la, ɖewohĩ viwòa maɖe dzesi aɖeke afia le edziɣi o. Ɣeaɖewoɣi la, ate ŋu axɔ ƒe geɖe hafi dzesiawo nadze. Ele vevie hã be nàɖo ŋku edzi be dzesi siwo viwòa kpɔna kple woƒe sesẽme ate ŋu ato vovo tso ame ɖeka gbɔ yi bubu gbɔ.

Kabuki ƒe dɔlélea ate ŋu agblẽ nu le ɖevi ƒe ŋutinu kple ɖoɖo vovovowo ŋu. Mina míalé ŋku ɖe dzesi siwo bɔ wu ŋu:

Mo ƒe nɔnɔme tɔxɛ aɖewo

Esiae nye nu gbãtɔ si ame geɖe kpɔna.

• Ŋku ƒe ɖawo ƒoa xlãe yia dzi eye woɖoa wo ɖe vovo. Taɖa ate ŋu avuvu le ŋkume ƒe nugbɔ.
• Ʋuʋudedi siwo le ŋkumeʋuʋu dome (palpebral fissures) va didina le mɔ si mesɔ o nu.
• No ƒe nugbɔ va zua gbadzaa.
• Towo ate ŋu alolo eye woanɔ abe kplu ene.

Tɔtrɔ siwo va le ƒunukpeƒetetedɔ me

Woate ŋu akpɔ tɔtrɔ aɖewo le ŋutilã ƒe ƒuwo hã me.

• Aklã ƒe dɔmawɔmawɔ nyuie (abe scoliosis ene).
• Woate ŋu abɔbɔ asibidɛ si le pinky la. Woyɔa esia be clinodactyly le atikewɔwɔ me.
• Asibidɛwo kple afɔbidɛwo ate ŋu ava kpuie (brachydactyly).

Nɔnɔme siwo do ƒome kple lãmekawo ƒe dɔwɔwɔ

Àte ŋu akpɔ nu aɖewo siwo do ƒome kple ahɔhɔ̃ kple lãmekawo hã.

• Susu ƒe nuwɔametɔnyenye si nu mesẽ o alo esi sɔ gbɔ.
• Asrãdɔ ƒe alɔ̃madɔmadɔ.
• Nuƒoƒo ƒe megbetsitsi.
• Lãmetsiwo ƒe gbɔdzɔgbɔdzɔ (woyɔa esia be ``hypotonia''). Esia fia be ŋutilãa sena le eɖokui me be yeƒe lãme le ƒuƒlu vie.

Tsitsi kple dɔgbo ƒe kuxiwo

Esia ate ŋu akpɔ ŋusẽ ɖe ɖevia ƒe tsitsi kple eƒe nuɖuɖu dzi.

• Kɔkɔme kple kpekpeme ate ŋu asɔ le vidzidzi me, gake tsitsi ƒe kuxi aɖewo ate ŋu ado mo ɖa ne woxɔ ɣleti 12 lɔƒo.
• Ta ƒe lolome ate ŋu anɔ sue wu le mama dedie nu.
• Nuɖuɖu kple nu mimi ate ŋu asesẽ.
• Afɔku li be nàlolo akpa ne ènye sɔhɛ kple ne èva zu ame tsitsi.

Vevietɔ: Dzesi siawo dometɔ ɖeka alo eve pɛ ko mefia kokoko be Kabuki ƒe dɔlélea le ɖevi ŋu o. Ele vevie be nàdi atikewɔlawo ƒe aɖaŋuɖoɖo hafi woate ŋu akpɔ dɔlélea nyuie.

Ŋutinu kple ɖoɖo bubu siwo ŋu wòate ŋu agblẽ nu le

Tsɔ kpe ɖe dzesi vevi siawo ŋu la, Kabuki ƒe dɔlélea ate ŋu ahe kuxi bubu vovovowo vɛ.

• Dzidɔ si wodzina (dzidɔ si nɔa anyi le vidzidzi me).
• Dɔgbo ƒe kuxiwo (e.g. dɔgbo ƒe ʋuʋu, dɔgbo ƒe ʋuʋu alo nuɖuɖu si le dodom ɖe ŋɔti me).
• Ayiku kple vidzidzi ƒe kuxiwo.
• Nuyi kple/alo aɖu si me mã.
• Ŋku ƒe ʋuʋudedi alo ŋkume ƒe ʋuʋu.
• Do gãwo ƒe anyinɔnɔ le aɖuawo dome.
• Dɔlékuiwo xɔxɔ enuenu alo dɔlélenutsiŋutete ƒe dɔlélewo ƒe afɔku si dzina ɖe edzi.
• Tosese ƒe kuxi.
• Ƒewuiwo ƒe tsitsi kaba.

Nukae hea Kabuki ƒe dɔlélea vɛ?

Enyo, azɔ mina míalé ŋku ɖe nusi gbɔ nɔnɔme sia tso ŋu. Domenyiŋusẽfianu eve dometɔ ɖeka ƒe tɔtrɔ (to vovo) gbɔe Kabuki ƒe dɔlélea tsona.

Zi geɖe la, abe 75% ene la, domenyiŋusẽfianu si woyɔna be `KMT2D` (si woyɔna tsã be `MLL2`) ƒe tɔtrɔ gbɔe wòtsona. Woyɔa esia be Kabuki ƒe dɔléle ƒomevi 1.

3% va ɖo 5% mamlɛawo tsoa domenyiŋusẽfianu KDM6A ƒe tɔtrɔ gbɔ. Woyɔa esia be Kabuki ƒe dɔléle ƒomevi 2 lia.

Kpuie ko la, domenyiŋusẽfianu eve siawo gblɔna na míaƒe lãmenugbagbeviwo be woawɔ enzyme tɔxɛwo. Enzyme siawo trɔa asi le protein siwo woyɔna be histones ŋu. Histone siawo léna ɖe míaƒe DNA ŋu eye wonaa míaƒe domenyiŋusẽfianuwo ƒe nɔnɔme. Eyata to asitɔtrɔ le histone siawo ŋu me la, enzyme mawo ate ŋu akpɔ míaƒe domenyiŋusẽfianuwo ƒe dɔwɔwɔ dzi. Enzyme siawo le vevie ŋutɔ na ɖevi ƒe tsitsi.

Eyata, ne tɔtrɔ va le `KMT2D` domenyiŋusẽfianu alo `KDM6A` domenyiŋusẽfianu me la, womewɔa enzyme siawo o. Emegbe esi enzyme siawo mele ŋutilãa me o ta la, domenyiŋusẽfianuawo mewɔa dɔ nyuie o. Ema tae dzesiawo kple tsitsi ƒe tɔtrɔ siwo wokpɔna le Kabuki ƒe dɔlélea me la tso.

Gake ɣeaɖewoɣi la, wokpɔa Kabuki ƒe dɔlélea gake womekpɔa tɔtrɔ aɖeke le domenyiŋusẽfianu eveawo dometɔ aɖeke ŋu o. Le nɔnɔme mawo me la, eŋutinunyalawo mete ŋu dea dzesi nusi tututu gbɔ dɔlélea tso kokoko o.

Aleke ɖɔktawo wɔna dea dzesi esia?

Ne èsusu be dzesi siawo le viwòa ŋu la, nu gbãtɔ si wòle be nàwɔe nye be nàyi ɖɔkta gbɔ. Ðɔktaa abia nya wò tso viwòa ƒe atikewɔwɔ ŋutinya ŋu eye wòado viwòa kpɔ. Adi mo ƒe nɔnɔme tɔxɛ ɖesiaɖe, ƒunukpeƒetetedɔ, alo ahɔhɔ̃mekawo ƒe dɔmawɔmawɔ nyuie si do ƒome kple Kabuki ƒe dɔlélea. Abia nya tso ɖevia ƒe ƒomea (ƒome si wodzi) ƒe atikewɔwɔ ŋutinya hã ŋu.

Dodokpɔ siwo wowɔna tsɔ dia dɔlélewoe

Be ɖɔktaa naɖo kpe dɔlélea dzi la, aɖe gbe be woado domenyiŋusẽfianu kpɔ. Esia bia be woaɖe ɖevia ƒe ʋu eye woadi tɔtrɔ siwo le domenyiŋusẽfianu siwo hea Kabuki ƒe dɔlélea vɛ me.

Abe alesi megblɔe va yi ene la, ɖewohĩ domenyiŋusẽfianu siawo dometɔ aɖeke ƒe tɔtrɔ aɖeke manɔ ɖevi aɖewo siwo ŋu Kabuki ƒe dɔlélea le ŋu o. Le nɔnɔme mawo me la, ɖɔkta ate ŋu awɔ ʋudodokpɔ bubuwo alo domenyiŋusẽfianu ŋuti numekukuwo atsɔ aɖe nɔnɔme bubuwo ɖa.

Nukawoe nye atike siwo wozãna na Kabuki ƒe dɔlélea?

Esia aɖi nublanuinya vie, gake atike aɖeke meli na Kabuki ƒe dɔlélea o. Ke hã, atikewɔmɔnu aɖewo li. Taɖodzinu vevitɔ si le atikewɔwɔ siawo ŋue nye be woaɖu viwòa ƒe dzesi tɔxɛwo dzi eye woaɖe kuxi siwo ate ŋu ado mo ɖa dzi akpɔtɔ. Mina míalé ŋku ɖe nusiwo nye atikewɔmɔnu siawo ŋu:

• Nudede nyawo me kaba: Ðevi ɖoɖo ɖe kpekpeɖeŋunadɔwo kple hehenana tɔxɛwo ƒe ɖoɖowo le eƒe ɖevime kpena ɖe woƒe susu ƒe tsitsi ŋu.
• Sidzenuwo ƒe ƒoƒo ɖekae ƒe atikewɔwɔ: Esia bia be woatsɔ ɖevia ade seselelãme ƒe dɔwɔna vovovowo me eye woakpe ɖe eŋu wòakpɔ alesi wowɔa nui ɖe nusiwo doa ŋusẽe ŋu gbɔ.
• Atikewɔwɔmɔnu vovovowo:
• Lãmesẽdɔdada ate ŋu ado ŋusẽ ɖevia ƒe lãmekawo.
• Dɔwɔwɔ ƒe atikewɔwɔ ate ŋu akpe ɖe ame ŋu wòatu lãmekawo ƒe dɔwɔwɔ nyuie ɖo, abe asibidɛwo ƒe ʋuʋu suesuesuewo ene.
• Nuƒoƒo ƒe atikewɔwɔ ate ŋu akpe ɖe ame ŋu wòatu nuƒoƒo kple gbegbɔgblɔ ƒe ŋutete ɖo.
• Nuɖuɖu siwo le ʋeʋẽm kple/alo gastrostomy tube dede eme: Ne nuɖuɖu le sesẽm na viwòa la, viwòa ate ŋu aɖo aɖaŋu le tiatia siawo ŋu.
• Tsitsi ƒe lãmetsiŋusẽ ƒe atikewɔwɔ kpeɖeŋutɔ: Ðevi siwo ƒe tsitsime lãmetsiŋusẽ mele o eye woƒe kɔkɔme le kpuie ate ŋu akpɔ viɖe tso atikewɔwɔ sia me.
• Tomemɔ̃ alo mɔ̃ siwo naa nyaƒoɖeamenu sɔna: Ne wò to me gblẽ la, mɔ̃ siawo ate ŋu akpe ɖe ŋuwò.
• Atikewo: Woate ŋu azã atikewo atsɔ aɖu dzesiwo abe alɔ̃madɔmadɔ, dɔgbo ƒe ʋuʋu, kple ADHD (attention deficit hyperactivity disorder) ene dzi.
• Amekoko:Ɣeaɖewoɣi la, ehiãna be woawɔ dɔ na ame le nuwo abe scoliosis, dzidɔ, kple nuyi kple aɖu siwo me ʋuʋu ene ta.

Atike si tututu woawɔ na viwòa anɔ te ɖe woƒe ŋutilã ƒe akpa siwo ŋu wògblẽ nu le kple woƒe dzesiwo dzi. Ate ŋu ahiã hã be woayi eŋutinunyala vovovowo gbɔ (e.g., dzidɔŋutinunyala, ahɔhɔ̃ŋutinunyala, aɖudɔdala, lãmenugbagbeviwo ƒe dɔwɔwɔ ŋuti nunyala, dɔgboŋutinunyala, dɔlélenutsiŋuteteŋutinunyala, ŋkudɔdala, alo tsinyegoeŋutinunyala).

Wole dɔdamɔnu dodokpɔwo kple numekuku bubuwo wɔm fifia be woakpɔ atike na nusi gbɔ Kabuki ƒe dɔlélea tso.

Ne Kabuki ƒe dɔléle le vinye ŋu la, aleke mate ŋu akpe ɖe eŋu?

Enye nusi sɔ be nàse le ɖokuiwò me be yeƒe mo wɔ yaa eye yevɔ̃na ne èsrɔ̃ nane si le abe esia ene. Gake menye wò ɖeka koe o. Nu vevitɔ kekeake si nàte ŋu awɔe nye be nàsrɔ̃ nu geɖe tso nɔnɔme sia ŋu alesi nàte ŋui. Wɔ dɔ kple viwò ƒe ɖɔkta be nànya nu si nàte ŋu awɔ atsɔ akpɔ viwòa dzi nyuie wu. Ate ŋu aɖe vi ŋutɔ hã be woage ɖe kpekpeɖeŋunahawo me na ɖevi siwo ŋu dɔléle siwo mebɔ o le ƒe ƒomewo. Àte ŋu agblɔ nuteƒekpɔkpɔwo na dzila bubuwo le afima, abia nyawo, eye nàkpɔ akɔfafa.

Nukae nye ame si ŋu Kabuki ƒe dɔlélea le ƒe agbenɔƒe?

Ame si ŋu Kabuki ƒe dɔlélea le ƒe nyagblɔɖi kple agbenɔƒe nɔ te ɖe alesi woƒe nɔnɔmea nu sẽe dzi. Togbɔ be dɔlélea ate ŋu adze ametia ƒe akpa geɖe dzi hã la, menye nenemae wònɔna ɣesiaɣi o. Ðevia ƒe dzesi tɔxɛwo dada kple mɔxexe ɖe kuxiwo nu nye nu vevi aɖe si ana woƒe etsɔme nanyo ɖe edzi.

Ame tsitsi siwo ŋu dɔléle sia le ate ŋu anɔ agbe si sɔ. Woate ŋu awɔ gbesiagbedɔwo ahawɔ ɣeyiɣi aɖe ƒe dɔwo. Ke hã, zi geɖe la, wohiãa beléle si akpe ɖe wo ŋu. Esi wònye be nɔnɔmea mebɔ o ta la, womewɔ numekuku boo aɖeke tso amesiwo ŋu Kabuki ƒe dɔlélea le ƒe agbenɔƒe ŋu o. Eyata, anyo wu be nàbia viwò ƒe ɖɔkta tso woƒe agbenɔƒe ŋu le woƒe nɔnɔme tɔxɛa nu.

Mlɔeba la, nu siwo dzi wòle be woaɖo ŋkui

Ate ŋu ado vɔvɔ̃ na wò be nànya be domenyiŋusẽfianu ƒe dɔléle aɖe le viwòa ŋu. Gake Kabuki ƒe dɔlélea ƒe dzesiwo, atikewɔwɔ, kple eƒe ŋgɔdonya toa vovo ŋutɔ tso ame ɖeka gbɔ yi bubu gbɔ. Ƒo nu kple viwòa ƒe ɖɔkta be nànya nu geɖe tso viwòa ƒe nɔnɔme tɔxɛa ŋu. Ate ŋu akpe ɖe ŋuwò le mɔzɔzɔ sia me. Kpekpeɖeŋunahawo na ƒome siwo ŋu domenyiŋusẽfianu ƒe nɔnɔme siwo mebɔ o gblẽ nu le hã ate ŋu anye ŋusẽtsoƒe gã aɖe. Woate ŋu aɖo wò biabiawo ŋu eye woana mɔkpɔkpɔ wò ɖe viwòa ƒe nɔnɔmea ŋu. Mègase le ɖokuiwò me gbeɖe be yetsi akogo o. Mègahe ɖe megbe le kpekpeɖeŋu si nèhiã la xɔxɔ me o.

`Kabuki Dɔléle, Domenyiŋusẽfianu ƒe Dɔlélewo, Ðeviwo ƒe Dɔlélewo, Mo ƒe Nɔnɔmewo, Tsitsi ƒe Kuxiwo, Susu ƒe Tsitsi, Kabuki Dɔléle, Dɔléle Si Mebɔ O