Okudingeka ukwazi nge-Barber Say Syndrome: Ingabe ingane yakho inalezi zimpawu?

Usana olusanda kuzalwa luyintokozo enkulu emndenini, akunjalo? Wonke umuntu ulindele ukubona ubuhle bomntwana. Kodwa, ngezinye izikhathi, ngisho nakancane kakhulu, lapho sibona izinguquko ezithile ekubukekeni komntwana wethu omncane, umama noma ubaba angazizwa ekhathazekile futhi esaba kakhulu. Kanjalo nje, i-Barber Say Syndrome yisimo sofuzo esenzeka kubantu abambalwa kakhulu emhlabeni. Ake sixoxe ngalokhu ngemininingwane ethe xaxa namuhla, ngoba kubaluleke kakhulu ukuqaphela lokhu.

Iyini i-Barber Say Syndrome?

Kalula nje, i-Barber-Sey syndrome iyisimo esingavamile kakhulu sofuzo . Sizalwa naso, okusho ukuthi sikhona lapho sizalwa . Lesi simo singabangela izinguquko ezithile noma ukukhubazeka emzimbeni wosana olusanda kuzalwa, ikakhulukazi ekubukekeni kwangaphandle, njengobuso.

Kodwa into ebaluleke kakhulu okufanele uyikhumbule lapha ukuthi lesi simo ngokuvamile asithinti izitho zangaphakathi zengane noma amakhono okuqonda (ukuqonda) . Lokhu kusho ukuthi indlela yokucabanga nokufunda kwengane ingase ihlale ijwayelekile. Kodwa-ke, uhlobo kanye nobunzima balezi zimpawu kungahluka kuye ngosana. Ezinye izingane zingase zizwe:

• Izici zobuso ezihlukile.
• Ukukhula kwezinwele ngokweqile (hypertrichosis) .
• Isikhumba esincane kakhulu, esibuthakathaka (esingajwayelekile) .

Ubani ongaba nalesi simo? Sivame kangakanani?

Njengoba i-Barber-Say syndrome iyisifo esibangelwa izakhi zofuzo, ingathinta noma ubani. Kodwa-ke, iyisimo esingavamile kakhulu . Sivela kubantu abangaphansi koyedwa kwabayisigidi abazalwa emhlabeni jikelele. Ososayensi bakholelwa ukuthi ezweni elinjenge-United States, kunabantu abaphakathi kuka-1 no-300 abanalesi simo. Ngakho-ke, ungacabanga ukuthi lokhu kungavamile kangakanani, akunjalo?

Ziyini izimpawu? Uzibona kanjani?

Izimpawu ze-Barber-Say syndrome zingabonakala ekuzalweni (ekuzalweni) . Kodwa-ke, njengoba kushiwo ngaphambili, akuzona zonke izingane ezizoba nezimpawu ezifanayo, futhi ubukhulu bezimpawu bungahluka.

Izici ezithile zibonakala ebusweni

Lesi simo singase sibangele izinguquko ezithile eziphawulekayo ebusweni bomntwana. Isibonelo:

• Ukungabikho noma ukukhula okubi kakhulu kwezinkophe.
• Amehlo avulekile .
• Ukungabikho kwezinkophe.
• Amajwabu amehlo aphenduke ngaphandle .
• Isikhala esiphakathi kwamakhona amehlo omntwana lapho kuhlangana khona izinkophe ezingaphezulu nezingezansi sikhulu kunokujwayelekile.
• Impumulo ebheke phezulu .
• Ikhala elikhulu, eliyindilinga.
• Ibhuloho elibanzi lekhala.
• Umlomo obanzi.
• Ukuqhuma kwezinyo sekwephuzile .

Ezinye izici zomzimba

Ngaphezu kwezici zobuso, ungabona nezinye izici ezifana nalezi:

• Ukukhula kwezinwele okungavamile, okweqile (hypertrichosis) engxenyeni enkulu yomzimba wengane.
• Isikhumba siyakhululeka kakhulu futhi sigobe . Lesi sikhumba sinwebeka kakhulu kunokujwayelekile futhi sibuyela esimweni saso sokuqala uma seluliwe (isikhumba esinwebeka kakhulu).
• Ukukhubazeka kokuzwa .
• Ukungabikho noma izicubu ezincane kakhulu zebele.
• Ukungabikho noma ukungakhuli kahle kwezingono.
• Ukwehluleka ukukhula . Lokhu kusho ukuthi ingane iyanda isisindo futhi ikhula kancane kancane.

Kungani lesi simo senzeka? Yiziphi izizathu?

Imbangela eyinhloko ye-Barber-Say syndrome ukushintsha kwezakhi zofuzo noma ukuguquka kwezakhi zofuzo `TWIST2` . Lesi sakhi sofuzo sikhiqiza iphrotheni ehilelekile ekukhuleni kwamangqamuzana amathambo emzimbeni wethu. Ngakho-ke, uma kukhona iphutha kulesi sakhi sofuzo, kuvela izimpawu ezihambisana nalesi sifo.

Ngenxa yokuthi lesi sifo asivamile, ucwaningo ngendlela yofuzo lulinganiselwe. Ezimweni eziningi, kubonakala ukuthi lapho ingane izuza ifa lofuzo eliguquliwe komunye wabazali, ingane inamathuba amaningi okuthola lesi sifo . Lokhu kubizwa ngokuthi iphethini elilawulayo le-autosomal .

Kodwa-ke, ngezinye izikhathi ingazuzwa njengefa ngendlela ye-autosomal recessive . Lokhu kusho ukuthi ingane izokhula kuphela uma izuza i-gene eguquliwe kubazali bobabili . Kwezinye izimo, ingane ingakhula lesi simo ngenxa yokuguquka okusha (de novo mutation) ku-gene ye-TWIST2 , ngaphandle kokuthi noma ubani emndenini abe nalesi sifo ngaphambili.

Kutholakala kanjani lokhu?

Udokotela wengane yakho uzoqala ngokuyihlola ngokomzimba . Phakathi nalokhu kuhlolwa, bazobheka izimpawu ezithile zalesi simo, njengokushintsha kobuso, ukukhula kwezinwele ngokweqile, kanye nokuthungwa kwesikhumba. Bazobuza nangomlando womndeni wakho wemvelo.

Ukuqinisekisa ukuxilongwa, udokotela uzoyala ukuhlolwa kofuzo . Lokhu kuhilela ukuthatha isampula encane yegazi lomntwana bese ebheka izinguquko zofuzo. Ngokukhethekile, bafuna uguquko ku-gene ethi `TWIST2` okukhulunywe ngayo ngaphambilini .

Yiziphi izindlela zokwelapha?

Uma ngikhuluma iqiniso, alikho ikhambi eliqondile le-Barber-Say syndrome okwamanje . Kodwa-ke, kuye ngezimpawu zomntwana, uhlelo oluthile lokwelashwa lungenziwa ngokwezidingo zomntwana ngamunye.Udokotela wezingane wengane yakho uzosebenzisana nethimba lochwepheshe ukwenza lokhu. Lokhu kungafaka:

• Udokotela wamehlo : Udokotela oxilonga futhi elapha izifo ezihlobene namehlo nokubona.
• Udokotela Wesikhumba : Udokotela owelapha izifo ezihlobene nesikhumba, izinwele nezinzipho.
• Umeluleki wezakhi zofuzo : Uchwepheshe wezempilo okusiza ukuqonda ingozi yokuthola isifo sofuzo noma ukusidlulisela enganeni yakho.

Njengendlela yokwelapha ehlukile, kunezinhlobo eziningana zokuhlinzwa kwepulasitiki ezingenziwa ukulungisa ukukhubazeka emzimbeni wengane. Abantu abaningi babona umehluko omkhulu ngaphambi nangemva kwalokhu kuhlinzwa. Lokhu kuhlinzwa kungafaka:

• Ukuhlinzwa kwamazinyo okubandakanya ubuso, umlomo, noma umhlathi (ukuhlinzwa kwe-maxillofacial).
• Ukuhlinzwa kokulungisa ubuso, njengokufaka okuthile ezihlathini (izimila ze-malar).
• Ukuhlinzwa kwejwabu leso (`blepharoplasty` noma `tarsorrhaphy`).
• Ukuhlinzwa kokushintsha ukuma kwekhala (i-rhinoplasty).
• Ukuhlinzwa kwezindebe `(cheiloplasty)`.
• Ukuhlinzwa kokulungisa umhlathi (ukuhlinzwa kwe-orthognathic).
• Ukuhlinzwa kwesilevu (genioplasty).
• Ukukhulisa amabele (lokhu kwenziwa ngemva kokuthomba).

Ezinye izindlela zokwelapha zingafaka:

• Ukwelashwa nge-laser kokukhula kwezinwele ngokweqile (i-hypertrichosis).
• Ezinye izinkinga zamehlo zingelashwa ngokudabuka kokwenziwa, amafutha okugcoba amehlo, kanye nama-antibiotic .

Ingabe ikhona indlela yokuvimbela lokhu?

Ngenxa yokuthi i-Barber-Say syndrome iyisimo sofuzo, ayikho indlela yokusivimbela . Kodwa-ke, uma ulindele umntwana, kubalulekile ukukhuluma nodokotela wakho mayelana nokuhlolwa kofuzo . Ukuhlolwa kofuzo kungakusiza uqonde ingozi yakho yokudlulisela izakhi zofuzo ezithile enganeni yakho.

Ingakanani iminyaka yokuphila kwengane ene-Barber Say Syndrome?

Nakuba lokhu kungase kuzwakale njengomthwalo omkhulu ukukuzwa, isikhathi sokuphila somuntu one-Barber-Se syndrome sivamile . Ngisho noma ingane yakho inezinkinga zomzimba, njengokukhubazeka, njengoba kushiwo ngaphambili, lesi sifo ngokuvamile asithinti izitho zangaphakathi noma ubuhlakani . Ngakho-ke, ukukhula kwemisipha yengane kanye nokukhula kwenkulumo kufanele kukhule ngendlela evamile.

Kodwa-ke, ekugcineni, impilo yesikhathi eside yengane yakho izoncika ohlotsheni kanye nobukhali bezimpawu zayo. Ngakho-ke, kungcono ukubuza udokotela wakho mayelana nobude bempilo yengane yakho.

Imibuzo ebalulekile okufanele uyibuze udokotela wakho

Kuvamile ukuba nemibuzo eminingi engqondweni yakho ngesikhathi esinjengalesi. Buza udokotela wengane yakho imibuzo efana nale ukuze akusize uxazulule izinkinga zakho:

• Kungavamile kangakanani lesi simo enganeni yami?
• Zingakanani izimpawu zomntwana wami?
• Hlobo luni lokwelashwa oludingwa yingane yami?
• Hlobo luni lokuhlinzwa oluzodingwa yingane yami?
• Ingakanani iminyaka yokuphila kwengane yami?

Ukuba ngumzali okokuqala kungaba yinto eyesabekayo. Ukuthola ukuthi ingane yakho inesifo sofuzo esingavamile kungaba nzima nakakhulu. Uma ingane yakho ine-Barber-Sey syndrome, cabanga ngokujoyina iqembu lokusekela imindeni yezingane ezinezimo ezingavamile . Iqembu elinjalo lingaba yindlela enhle yokuthola izimpendulo zemibuzo yakho nokuthola ithemba ngesimo sengane yakho.

Ekugcineni, umyalezo okufanele uwuthathe uye nawo ekhaya

Sithemba ukuthi lokho esikuxoxile kukunikeze umbono nge-Barber Say Syndrome. Khumbula, noma ngabe ingane yakho inezinguquko ezithile emzimbeni, amakhono ayo okuqonda kufanele abe ajwayelekile . Lokhu kusho ukuthi ingane yakho kufanele ikwazi ukuphila impilo evamile nekhiqizayo .

Into ebaluleke kakhulu ukungesabi, ukuthola iseluleko esifanele sezokwelapha, nokunikeza ingane yakho uthando nokunakekelwa ekudingayo. Uma unemibuzo, khuluma nodokotela bakho ngokukhululekile. Bakulungele ukukusiza.

Sithemba ukuthi lolu lwazi lube wusizo kuwe!

I- Barber Say Syndrome, izifo zofuzo, izifo ezingavamile, impilo yengane, ukukhubazeka kobuso, izifo zesikhumba, ukwelulekwa ngofuzo