Ðe tɔtrɔ sia ƒomevi le viwòa ƒe ŋkume? Mina míasrɔ̃ nu tso (Blepharophimosis Syndrome) ŋu!

Ɣeaɖewoɣi la, ɖewohĩ ède dzesii be vidzĩ suewo ƒe ŋkumeɖonuwo le nɔnɔme wɔnuku aɖe nu. Ðewohĩ ŋkuawo ƒe ʋuʋu le sue, alo edze abe ŋkuawo le ɖiɖim ene. Nane si le abe esia ene kpɔkpɔ ate ŋu ana nàvɔ̃ vie abe vidada ene. Le ɣeyiɣi mawo me la, ele vevie ŋutɔ be míanya nɔnɔme sia si ŋu míele nu ƒom tsoe, si nye Blepharophimosis Syndrome.

Nukae nye Blepharophimosis Dɔléle? Kpuie ko la,...

Esia nye domenyiŋusẽfianu ƒe nɔnɔme si kpɔa ŋusẽ ɖe alesi wò ŋkume ƒe wɔwɔme dzi. Bu eŋu kpɔ, míaƒe ŋkumewoe nye akpa vevitɔ kekeake si kpɔa ŋkua ta. Eyata, amesi ŋu dɔléle sia le ƒe ŋkuwo ƒe ʋuʋu, si fia be dometsotso si le ŋkuawo dome, le sue wu ame dzɔdzɔe. Azɔ hã, ŋkume ƒe akpa si le etame la le abe ŋkume ƒe akpa si le ŋeŋe ene . Nu bubue nye be le ŋkua ƒe akpa si le eme, si fia be le ŋɔti ƒe akpa dzi la, àte ŋu akpɔ ŋutigbalẽ ƒe akpa sue aɖe tso ŋkume ƒe akpa si le ete va ɖo ŋkume ƒe akpa si le etame.

Nusitae nye tɔtrɔ si va le domenyiŋusẽfianu si woyɔna be `FOXL2`, alo abe alesi ɖɔktawo yɔnae ene la , domenyiŋusẽfianu ƒe tɔtrɔ . Nu vevi bubu enye be nyɔnu siwo ŋu `Blepharophimosis Syndrome` sia le ƒe azigolowo hã ateŋu adze edzi.

Ŋkɔ didi bubu aɖe li si ɖɔktawo zãna na esia, si nye `Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome`. Wogayɔnae be `BPES` kpuie. Ame aɖewo ateŋu ayɔe hã be ``small eye opening syndrome.`` Esia nye nɔnɔme si wodzina , si fia be vidzĩa ateŋu akpɔ dzesi siawo le edziɣi.

Woyɔa nya "blepharophimosis" be "bleph-a-ro-phi-mo-sis." Eɖi nya sesẽ vie, alo? Gake esia menyo o, mina míagblɔ ko be `BPES` le nuwɔwɔ bɔbɔe ta.

Ðe esia ƒomevi aɖewo lia? (BPES ƒomeviwo) .

Ẽ, `BPES` siawo ƒe ƒomevi vevi eve li. Woawoe nye Ƒomevi I kple Ƒomevi II .

Nɔnɔme aɖewo li siwo bɔ ɖe ƒomevi evea siaa ŋu:

• Ŋkuʋuʋu siwo le sue wu esiwo sɔ (blepharophimosis) .
• Ŋku ƒe ʋuʋu (ptosis) .
• Ŋkuwo to vovo wu alesi wòle dzɔdzɔmee (telecanthus) .
• Ŋutilã ƒe akpa si wobla ɖe dzi le ŋkume ƒe akpa si le ete ƒe akpa si le eme, si fia be eɖo ta ŋɔti gbɔ (epicanthus inversus) .

Azɔ mina míakpɔ vovototo tɔxɛ siwo le ƒomevi eve siawo dome ɖa.

BPES Ƒomevi I

Ne BPES ƒomevi I le ŋuwò la, ate ŋu ahe nɔnɔme aɖe si woyɔna be Primary Ovarian Insufficiency (POI) vɛ. Ame aɖewo hã yɔa esia be " azigolo ƒe dɔmawɔmawɔ nyuie." Kpuie ko la, enye ne nyɔnu ƒe azigolowo dzudzɔ dɔwɔwɔ hafi ɣeyiɣi si wokpɔ mɔ na la ɖo.

BPES Ƒomevi II (BPES Ƒomevi II) .

Gake ne BPES ƒomevi II le ŋuwò la, mehea ɖoɖowɔɖi ƒe kuxi bubu aɖeke vɛ le wò ŋutilã me o, si fia kuxi gã bubu siwo gblẽa nu le ŋutilã bliboa ŋu. Dzesi siwo wokpɔna koŋ koe nye esiwo do ƒome kple ŋkuwo.

Aleke gbegbee blepharophimosis ƒe dɔlélea bɔe?

Le xexeame katã la, wokpɔa `Blepharophimosis Syndrome` sia le agbɔsɔsɔ si ade 1 le vidzidzi 50,000 ɖesiaɖe me . Esia fia be enye nɔnɔme si mebɔ kura o.

Nukawoe nye blepharophimosis syndrome ƒe dzesiwo kple dzesiwo?

`Blepharophimosis Syndrome` sia ƒe dzesiwo kpɔa ŋusẽ ɖe wò ŋkuwo ƒe dzedzeme dzi koŋ. Ðo ŋku dzesi vevi ene siwo ŋu míeƒo nu tsoe va yi dzi:

• Ŋku ƒe ʋuʋu suesuesuewo.
• Ŋku ƒe ʋuʋudedi siwo le gegem ɖe anyigba ( Ptosis ).
• Ŋku siwo woɖo ɖe teƒe geɖe (Telecanthus).
• Ŋutilã ƒe akpa si ƒoa ƒu ɖe ŋkume ƒe akpa si le ete (Ememe Ŋku ƒe akpa si le ete si ƒoa ƒu ɖe dzi - Epicanthus Inversus).

Bu eŋu kpɔ ko, dzesi siawo ate ŋu atrɔ vidzĩa ƒe mo ƒe dzedzeme vie. Enye nusi sɔ be dzilawo natsi dzi ne wokpɔ esia. Gake mègatsi dzi o, nanewo li woate ŋu awɔ tso esia ŋu.

Tsɔ kpe ɖe nu vevi siawo ŋu la, woate ŋu akpɔ nu bubu aɖewo:

• Ectropion (ŋku ƒe ʋuʋudedi ƒe tɔtrɔ yi gota).
• Strabismus, si woyɔna hã be "ŋku siwo wotso ", nye nɔnɔme si me wotso ŋkuwo le.
• Amblyopia , si tsoa ŋkume ƒe ʋuʋu si xea mɔ na nukpɔkpɔ gbɔ. Ne míagblɔe tututu la, ŋkumeɖonu xea mɔ na nukpɔkpɔ.
• Constricted ears , si wogayɔna be "cup ears" alo "lop ears," fia be to ƒe goawo ate ŋu aƒo alo abla ɖe anyi.
• To siwo le bɔbɔe.
• Tɔdzisasrã gbadza aɖe si le ŋɔti me.
• Dometsotso si le ŋɔti kple nuyi si le etame dome la le sue wu alesi wòle dzɔdzɔmee.
• Amesiwo ŋu ƒomevi I le la ƒe azigolo ƒe dɔmawɔmawɔ nyuie (POI) gbãtɔ.

Nukatae esia dzɔna ɖo? Nukawoe gbɔ wòtsona? (Nukae hea blepharophimosis ƒe dɔlélea vɛ?)

Nu vevitɔ si gbɔ `Blepharophimosis Syndrome` sia tsoe nye domenyiŋusẽfianu si woyɔna be `FOXL2` ƒe tɔtrɔ alo tɔtrɔ . Esia toa domenyiŋusẽfianuwo dzi kakana le mɔ si nye autosomal dominant nu.

Kpuie ko la, esia fia be ne dzila ɖeka koe domenyiŋusẽfianu sia si wogbugbɔ (si trɔ) le gɔ̃ hã la, ɖevia ate ŋu anyie dome.Ke hã, ame aɖewo ate ŋu axɔ dɔlélea zi gbãtɔ, ne womenyie ƒe dome tso wo dzilawo gbɔ o gɔ̃ hã. Le nɔnɔme siawo tɔgbe me la, ɖɔktawo gblɔna be enye domenyiŋusẽfianu ƒe tɔtrɔ "yeye" alo yeye, si fia be menye dzila si ŋu dɔlélea le gbɔe wònyi o.

Kuxi bubu siwo ate ŋu ado mo ɖa le esia ta (Nukae nye kuxi siwo dona tso blepharophimosis syndrome me?)

Blepharophimosis ate ŋu akpɔ ŋusẽ ɖe wò ŋku dzi . Afɔku geɖe wu me be yeaxɔ vodada siwo le ŋku ƒe ʋuʋu me , si ate ŋu ana ame nabu nu le adzɔge alo le teƒe si te ɖe ŋuwò.

Vevietɔ vidzĩwo kple ɖevi sue siwo ŋu ptosis sesẽ (nɔnɔme si woyɔna be ŋku kuviatɔ) le ate ŋu axɔ dɔléle aɖe si woyɔna be amblyopia . Esia le alea elabena ŋkumeɖonuawo xea mɔ na woƒe ŋkumekpɔkpɔ, si wɔnɛ be ahɔhɔ̃a mete ŋu xɔa dzesi siwo tso ŋku ma gbɔ o. Ne womekpɔ esia gbɔ kaba o la, ŋku ma ƒe nukpɔkpɔ ate ŋu agblẽ tegbee.

Aleke wokpɔa dɔléle sia dzea sii? (Aleke wowɔna dea dzesi blepharophimosis ƒe dɔlélea?)

Wò ɖɔkta ate ŋu asusu be Blepharophimosis Syndrome le ŋuwò le esi wòkpɔ dɔdamɔnu ƒe dzesi vevi ene siwo ŋu míeƒo nu tsoe va yi eye wòdo ŋku kpɔ vɔ. Ŋkudɔdala bibi ate ŋu awɔ dodokpɔ siawo dometɔ aɖewo alo wo katã:

• Nukpɔkpɔ ƒe ŋutete dodokpɔ: Esia bia be woabia tso asiwò be nàxlẽ ŋɔŋlɔdzesi siwo le nɔnɔmetata dzi. Dodokpɔ sia ate ŋu akpe ɖe wò ɖɔkta ŋu wòanya nenye be ŋku ƒe nukpɔkpɔ ƒe vodadawo, abe nukpɔkpɔ kpui alo nukpɔkpɔ didi ene, le ŋuwò.
• Dodokpɔwo na ŋku kuviatɔ (Amblyopia) kple strabismus .
• Ʋudodokpɔ hena vidzidzi ƒe lãmetsiŋusẽ ƒe agbɔsɔsɔ (vevietɔ ne wosusu be enye ƒomevi I).
• Domenyiŋusẽfianu dodokpɔwo : Esia ateŋu aɖo kpe edzi nenye be tɔtrɔ aɖe le `FOXL2` domenyiŋusẽfianu me.

Nukawoe nye atikewɔmɔnuawo? (Aleke wodaa blepharophimosis ƒe dɔléleae?)

Zi geɖe la, wotsɔa amekoko daa Blepharophimosis Syndrome le ɖevime . Le ƒe 3 kple 5 dome la, wowɔa amekoko tsɔ ɖɔa nɔnɔme siwo woyɔna be epicanthus inversus (ŋku ƒe akpa si le eme ƒe ŋutigbalẽ ƒe babla) kple telecanthus (ŋku siwo dome didi tso wo nɔewo gbɔ) ɖo. Emegbe le abe ƒe ɖeka ene megbe la, amekola aɖe gawɔa dɔ bubu tsɔ ɖɔa ŋkume si le gegem ɖo (ptosis) ɖo. Ɣeaɖewoɣi la, woate ŋu awɔ amekoko siawo katã le ɣeyiɣi ɖeka me, gake esia mebɔ o.

Menye ɖeko wowɔa amekoko siawo be woatsɔ ana ŋkuawo nanyo ɖe edzi ko o, ke boŋ be woakpe ɖe ɖevia ƒe nukpɔkpɔ ŋu hã. Elabena ne wotu ŋkume la, nukpɔkpɔ matsi nyuie o.

Ne BPES ƒomevi I, si fia Primary Ovarian Insufficiency, le ŋuwò la, wò ɖɔkta ate ŋu aɖo aɖaŋu na wò be nàzã lãmetsiŋusẽtikewo ɖɔliɖɔli , vevietɔ estrogen kpeɖeŋutɔ. Gake ele vevie be míaɖo ŋku edzi be atikewɔwɔ siawo mekpɔa vidzidzi gbɔ o . Ele be nàdzro esia me kple vidzidzi ŋuti lãmesẽŋutinunyala.

Ðe mɔ aɖe li si dzi woato axe mɔ na esia be wòagadzɔ oa? (Aleke mawɔ aɖe afɔku si le eme be maxɔ blepharophimosis syndrome dzi akpɔtɔ?)

Mɔ aɖeke meli koŋ si dzi woato axe mɔ ɖe Blepharophimosis Syndrome nu o, elabena domenyiŋusẽfianu ƒe dɔlélee wònye. Gake ne dɔléle sia le wò ƒomea me la, anyo be nàbu domenyiŋusẽfianu ŋuti aɖaŋuɖoɖo nana ŋu hafi nàdzi vi. To mɔ sia dzi la, àte ŋu asrɔ̃ nu geɖe tso eŋu eye nàƒo nu tso afɔku si le viwòa ƒe domenyinyi me ŋu.

Nukae mate ŋu akpɔ mɔ na ne blepharophimosis syndrome le ŋunye?

Ne Blepharophimosis Syndrome le ŋuwò la, ahiã be woado wò ŋku kpɔ edziedzi . Esia ate ŋu akpe ɖe ŋuwò nàkpɔe ɖa be wò ŋku le lãmesẽ me hã eye ne kuxi bubu aɖewo li hã.

Ne ƒomevi I le ŋuwò la, ele be nàƒo nu kple lãmenugbagbeviwo ƒe dɔwɔwɔ ŋuti nunyala alo vidzidziŋutinunyala tso lãmetsiŋusẽ kple vidzidzinyawo ŋu.

Woate ŋu ada Blepharophimosis Syndrome, gake womate ŋu adae o. Eyae nye be togbɔ be amekoko ate ŋu ana ŋkuawo ƒe dzedzeme kple dɔwɔwɔ nagaɖo afi aɖe hã la, mate ŋu atrɔ domenyiŋusẽfianu si gbɔ wòtso o.

Nya kawoe wòle be mabia nye lãmesẽdɔwɔla?

Anyo be nàbia wò ɖɔkta nya siawo abe esiawo ene:

• Zi nenie wòle be woado nye ŋkuwo kpɔ?
• Ðe nèkafui be woaɖo aɖaŋu le domenyiŋusẽfianu ŋua?
• Aɖaŋu kawoe nàte ŋu aɖo atsɔ akpɔ vidzidzikuxiwo gbɔe?
• Nɔnɔme kawo mee wòahiã be nàyi xɔ si me wowɔa dɔ kpata le le nɔnɔme sia ta?

Vovototo kae le Blepharophimosis intellectual disability syndrome kple esia dome?

Esia hã tɔtɔa ame vie, eyata enyo be míana eme nakɔ. Ame siwo ŋu nɔnɔme siwo woyɔna be `Blepharophimosis intellectual disability syndromes` le hã ate ŋu akpɔ ŋkumeʋuʋu siwo le gegem ɖe anyigba eye ŋkuʋuʋu siwo le sue wu esiwo sɔ. Ke hã, womekpɔa `telecanthus` (ŋku siwo woɖe ɖe vovo) alo `epicanthus inversus` (ŋutilã ƒe akpa siwo le ememe) o.

Nu vevitɔe nye be amesiwo ŋu `Blepharophimosis intellectual disability syndromes` le la ƒe susu ƒe tsitsi nɔa blewu.Esia ƒe kpɔɖeŋu aɖewoe nye nɔnɔme siwo woyɔna be `Ohdo ƒe dɔléle` kple `Say-Barber-Biesecker-Young-Simpson ƒe dɔléle.` Dzɔdzɔmeŋutinunyalawo bu akɔnta be ame siwo ŋu susu ƒe nuwɔametɔnyenye ƒe dɔléle siawo le le United States mede 1,000 o.

Ke hã, amesiwo ŋu `Blepharophimosis Syndrome (BPES)` le si ŋu míele nu ƒom tsoe la, susu ƒe nuwɔametɔ aɖeke mele wo si o. Esiae nye vovototo vevitɔ.

Blepharophimosis Syndrome, alo BPES, nye dɔléle si mebɔ o si nɔa anyi le vidzidzi me. Mia kple wò atikewɔlawo ƒe ƒuƒoƒoa miate ŋu akpɔ nɔnɔme sia gbɔ nyuie. Zi geɖe la, amekoko be woaɖɔ ŋkume ƒe kuxiwo ɖo nyea atikewɔwɔ ƒe ɖoɖoa ƒe akpa aɖe.

Gbedasi si Wotsɔ Yi Aƒeme

Enyo, eyata, tso nusiwo me míedzro me la, mele mɔ kpɔm be susu nyui aɖe su asiwò le `Blepharophimosis Syndrome` ŋu. Ɖo ŋku edzi:

• Esia nye domenyiŋusẽfianu ƒe nɔnɔme , si gblẽa nu le ŋkume koŋ ŋu.
• Dzesi vevitɔwoe nye ŋku ƒe ʋuʋu suewo, ŋkume ƒe ʋuʋu, ŋku siwo le didiƒe ʋĩ, kple ŋutigbalẽ ƒe akpa si le eme.
• Wole ƒomevi eve (`Ƒomevi I` kple `Ƒomevi II`) . Le `Type I` me la, ate ŋu akpɔ ŋusẽ ɖe azigolowo hã dzi.
• Esia mehea susu ƒe nuwɔametɔ vɛ o.
• Amekoko ate ŋu ana ŋkuawo ƒe dzedzeme kple dɔwɔwɔ nanyo ɖe edzi.
• Ŋkudodokpɔ edziedzi kple ne ehiã la, lãmetsiŋusẽtikewo zazã le vevie.

Enye nusi sɔ be vɔvɔ̃ kple dzimaɖitsitsi ne èva nya be dɔléle sia le viwò ŋu. Gake ɖo ŋku edzi be menye wò ɖeka koe o. To ɖɔktawo ƒe kpekpeɖeŋu kple atikewɔwɔ nyuie me la, ame geɖe te ŋu kpɔ nɔnɔme sia gbɔ henɔ agbe si sɔ. Eyata, nɔ te sesĩe eye nàdi atikewɔlawo ƒe aɖaŋuɖoɖo si hiã.

` Blepharophimosis, BPES, Ŋku ƒe Ʋuʋudedi, Domenyiŋusẽfianu ƒe Dɔlélewo, Ptosis, Epicanthus Inversus, Ŋku ƒe Lãmesẽ