Oko kufuneka ukwazi ngeBarber Say Syndrome: Ngaba umntwana wakho unazo ezi mpawu?

Usana olusandul’ ukuzalwa luyolo olukhulu kusapho, akunjalo? Wonke umntu ulindele ukubona ubuhle bosana. Kodwa, ngamanye amaxesha, nokuba kunqabile kakhulu, xa sibona utshintsho oluthile kwinkangeleko yomntwana wethu omncinci, umama okanye utata unokuziva ekhathazekile kwaye esoyika. Kanye ngaloo ndlela, iBarber Say Syndrome yimeko yemfuza eyenzeka kubantu abambalwa kakhulu emhlabeni. Makhe sithethe ngale nto ngokweenkcukacha namhlanje, kuba kubaluleke kakhulu ukuyiqonda le nto.

Yintoni iBarber Say Syndrome?

Ngamafutshane, iBarber-Sey syndrome yimeko engaqhelekanga kakhulu yemfuza . Izalwa nayo, oko kuthetha ukuba ikhona xa izalwa . Le meko inokubangela utshintsho oluthile okanye ukukhubazeka emzimbeni wosana olusandul’ ukuzalwa, ingakumbi kwinkangeleko yangaphandle, njengobuso.

Kodwa eyona nto ibalulekileyo ekufuneka uyikhumbule apha kukuba le meko ayidli ngokuchaphazela amalungu angaphakathi omntwana okanye ubuchule bokuqonda (ukuqonda) . Oku kuthetha ukuba indlela yokucinga nokufunda komntwana inokuhlala iqhelekile. Nangona kunjalo, uhlobo kunye nobunzima bezi mpawu bunokwahluka kumntwana ngamnye. Abanye abantwana banokufumana oku kulandelayo:

• Iimpawu zobuso ezahlukileyo.
• Ukukhula kweenwele ngokugqithisileyo ngendlela engaqhelekanga (hypertrichosis) .
• Ulusu oluncinci kakhulu, olubuthathaka (olungenazo izinto) .

Ngubani onokufumana le meko? Ixhaphake kangakanani?

Ekubeni i-Barber-Say syndrome iyimeko yemfuza, inokuchaphazela nabani na. Nangona kunjalo, yimeko engaqhelekanga kakhulu . Iyenzeka kubantu abangaphantsi komnye kwisigidi abazalwayo kwihlabathi liphela. Izazinzulu zikholelwa ukuba kwilizwe elifana ne-United States, kukho abantu abaphakathi kwe-1 kunye ne-300 abanale meko. Ngoko ke, unokucinga ukuba oku kunqabile kangakanani, akunjalo?

Zithini iimpawu? Uzibona njani?

Iimpawu ze-Barber-Say syndrome zinokubonakala xa umntwana ezalwa (ezalwa ezelwe) . Nangona kunjalo, njengoko bekutshiwo ngaphambili, ayizizo zonke iintsana eziya kuba neempawu ezifanayo, kwaye ubukhali beempawu bunokwahluka.

Iimpawu ezithile ezibonakalayo ebusweni

Le meko inokubangela utshintsho olubonakalayo ebusweni bomntwana. Umzekelo:

• Ukungabikho okanye uphuhliso olubi kakhulu lweenkophe.
• Amehlo avuleke kakhulu .
• Ukungabikho kweenkophe.
• Iinkophe ezijike ngaphandle .
• Umsantsa ophakathi kweekona zamehlo omntwana apho iinkophe eziphezulu nezisezantsi zidibana khona mkhulu kunesiqhelo.
• Impumlo ejonge phezulu .
• Impumlo enkulu, engqukuva.
• Ibhulorho ebanzi yempumlo.
• Umlomo obanzi.
• Ukuqhuma kwamazinyo emva kwexesha .

Ezinye iimpawu zomzimba

Ukongeza kwiimpawu zobuso, ungabona nezinye iimpawu ezifana nezi:

• Ukukhula kweenwele okungaqhelekanga nokugqithisileyo (hypertrichosis) phantse kuwo wonke umzimba womntwana.
• Ulusu luyakhululeka kakhulu kwaye lugobe . Olu lusu luthambile ngakumbi kunesiqhelo kwaye luya kubuyela endaweni yalo xa lunwetshiwe (ulusu olukwaziyo ukwandiswa).
• Ukuphazamiseka kokuva .
• Ukungabikho okanye izicubu ezincinci kakhulu zebele.
• Ukungabikho okanye ukuphuhliswa okunganelanga kweengono.
• Ukungaphumeleli ukukhula . Oku kuthetha ukuba umntwana uyatyeba kwaye ukhula kancinci.

Kutheni le meko isenzeka? Zithini izizathu?

Eyona nto ibangela iBarber-Say syndrome kukutshintsha kwezakhi zofuzo okanye utshintsho kwizakhi zofuzo 'TWIST2' . Le zakhi zofuzo ivelisa iproteni ebandakanyeka ekukhuleni kweeseli zamathambo emizimbeni yethu. Ngoko ke, xa kukho isiphene kule zakhi zofuzo, iimpawu zesi sifo ziyavela.

Ngenxa yokuba esi sifo sinqabile, uphando malunga nendlela yokufumana ilifa lulinganiselwe. Kwiimeko ezininzi, kubonakala ukuba xa umntwana efumana ilifa le-gene eliguquliweyo komnye wabazali, umntwana unokuba nethuba elingcono lokufumana esi sifo . Oku kubizwa ngokuba yi-autosomal dominant pattern .

Nangona kunjalo, ngamanye amaxesha isenokufunyanwa njengelifa kwi-autosomal recessive pattern . Oku kuthetha ukuba umntwana uya kukhula kuphela ukuba uzuze i-gene eguquliweyo kubazali bobabini . Kwezinye iimeko, umntwana unokuba nesifo ngenxa ye-mutation entsha (de novo mutation) kwi-gene ye-TWIST2 , ngaphandle kokuba nabani na kusapho lwakhe abe nesifo ngaphambili.

Ifunyaniswa njani le nto?

Ugqirha womntwana wakho uza kuqala enze uvavanyo lomzimba . Ngexesha lovavanyo, uza kukhangela iimpawu ezithile zeso simo, ezinje ngokutshintsha kobuso, ukukhula kweenwele ngokugqithisileyo, kunye nokwakheka kolusu. Baza kubuza nangembali yosapho lwakho lwebhayoloji.

Ukuqinisekisa ukuxilongwa, ugqirha uza kuyalela uvavanyo lwemfuza . Oku kuquka ukuthatha isampuli encinci yegazi lomntwana nokukhangela utshintsho lwemfuza. Ngokukodwa, bakhangela utshintsho kwi-gene ethi `TWIST2` ekhankanyiweyo ngaphambili .

Zithini iindlela zonyango?

Inyaniso kukuba, okwangoku akukho ndlela ithile yonyango lwe-Barber-Say syndrome . Nangona kunjalo, ngokuxhomekeke kwiimpawu zomntwana, isicwangciso esithile sonyango sinokulungiswa kumntwana ngamnye.Ugqirha wezingane womntwana wakho uza kusebenzisana neqela leengcali ukwenza oku. Oku kungabandakanya:

• Ingcali yamehlo : Ugqirha oxilonga aze anyange izifo ezinxulumene namehlo nokubona.
• Ingcali yolusu : Ugqirha onyanga izifo ezinxulumene nolusu, iinwele, kunye nezinzipho.
• Umcebisi wezemfuza : Ingcali yezempilo ekunceda uqonde umngcipheko wokufumana isifo semfuza okanye ukusidlulisela kumntwana wakho.

Njengonyango olulolunye, kukho iintlobo ezahlukeneyo zotyando lweplastiki ezinokwenziwa ukulungisa iziphene emzimbeni womntwana. Abantu abaninzi babona umahluko omkhulu ngaphambi nasemva kolu tyando. Olu tyando lungabandakanya:

• Utyando lwamazinyo olubandakanya ubuso, umlomo, okanye umhlathi (utyando lwe-maxillofacial).
• Utyando lokulungisa ubuso, njengokufaka into ethile ezidleleni (ii-malar implants).
• Utyando lwezinkophe (`blepharoplasty` okanye `tarsorrhaphy`).
• Utyando lokutshintsha imo yempumlo (i-rhinoplasty).
• Utyando lomlomo `(cheiloplasty)`.
• Utyando lokulungisa umhlathi (utyando lwe-orthognathic).
• Utyando lwesilevu (genioplasty).
• Ukwandiswa kwamabele (oku kwenziwa emva kokufikisa).

Ezinye iindlela zonyango zingabandakanya:

• Unyango lwe-laser lokukhula kweenwele ngokugqithisileyo (i-hypertrichosis).
• Ezinye iingxaki zamehlo zinokunyangwa ngeenyembezi zokwenziwa, izithambisi zamehlo, kunye nee-antibiotics .

Ngaba ikho indlela yokuthintela oku?

Ngenxa yokuba i-Barber-Say syndrome yimeko yemfuza, akukho ndlela yokuyithintela . Nangona kunjalo, ukuba ulindele umntwana, kubalulekile ukuthetha nogqirha wakho malunga novavanyo lwemfuza . Uvavanyo lwemfuza lunokukunceda uqonde umngcipheko wakho wokudlulisela iimfuza ezithile kumntwana wakho.

Ingakanani iminyaka yobomi bomntwana one-Barber Say Syndrome?

Nangona oku kusenokuvakala ngathi ngumthwalo omkhulu ukukuva, ubomi bomntu one-Barber-Se syndrome buqhelekile . Nokuba umntwana wakho uneengxaki zomzimba, ezifana nokukhubazeka, njengoko bekutshiwo ngaphambili, esi sifo asidli ngokuchaphazela amalungu angaphakathi okanye ingqondo . Ngoko ke, uphuhliso lwemisipha yomntwana kunye nophuhliso lwentetho kufuneka lukhule ngendlela eqhelekileyo.

Nangona kunjalo, ekugqibeleni, impilo yexesha elide yomntwana wakho iya kuxhomekeka kuhlobo kunye nobukhali beempawu zakhe. Ke ngoko, kungcono ukubuza ugqirha wakho malunga nobude bobomi bomntwana wakho.

Imibuzo ebalulekileyo yokubuza ugqirha wakho

Kuqhelekile ukuba nemibuzo emininzi engqondweni yakho ngexesha elinje. Buza ugqirha womntwana wakho imibuzo efana nale ukuze akuncede ulungise iingxaki zakho:

• Ingaba le meko ingaqhelekanga kangakanani kumntwana wam?
• Zingakanani iimpawu zomntwana wam ezinzulu?
• Luhlobo luni lonyango olufunekayo kumntwana wam?
• Luhlobo luni lotyando oluya kufuneka umntwana wam alwenze?
• Ingakanani iminyaka yobomi bomntwana wam?

Ukuba ngumzali okokuqala kunokuba ngamava anzima. Ukufumanisa ukuba umntwana wakho unesimo semfuza esingaqhelekanga kunokuba nzima nangakumbi. Ukuba umntwana wakho une-Barber-Sey syndrome, cinga ngokujoyina iqela lenkxaso kwiintsapho zabantwana abaneemeko ezingaqhelekanga . Iqela elinjalo linokuba yindlela entle yokufumana iimpendulo kwimibuzo yakho kunye nokufumana ithemba ngemeko yomntwana wakho.

Okokugqibela, umyalezo oya ekhaya

Siyathemba ukuba oko sikuxubushileyo kukunike ulwazi oluthile ngeBarber Say Syndrome. Khumbula, nokuba umntwana wakho unezinye iinguqu emzimbeni, izakhono zakhe zokuqonda kufuneka zibe zezoqhelekileyo . Oku kuthetha ukuba umntwana wakho ufanele akwazi ukuphila ubomi obuqhelekileyo nobunemveliso .

Eyona nto ibalulekileyo kukungaxhalabi, ufumane ingcebiso efanelekileyo kwezonyango, kwaye unike umntwana wakho uthando kunye nenkathalo ayidingayo. Ukuba unemibuzo, thetha noogqirha bakho ngokukhululekileyo. Bakulungele ukukunceda.

Siyathemba ukuba olu lwazi lube luncedo kuwe!

Isifo sikaBarber Say, izifo zemfuza, izifo ezingaqhelekanga, impilo yabantwana, ukukhubazeka kobuso, izifo zesikhumba, ingcebiso yemfuza