Ingaba umntwana wakho omncinci unale nguqu ebusweni bakhe? Masithethe ngeVan der Woude Syndrome!

Ngaba umntwana wakho unezimbobo ezincinci emlonyeni wakhe ongezantsi? Okanye ngaba unomlomo oqhekekileyo okanye incasa? Ngamanye amaxesha unokubona nezinyo elingekhoyo? Kuqhelekile ukuba wena, njengomama okanye utata, uzive usoyika kwaye ukhathazekile xa ubona ezi zinto. Kodwa ungakhathazeki. Namhlanje siza kuthetha ngokweenkcukacha malunga nokuba yintoni ebangela ezi zinto kunye noko kunokwenziwa ngazo. Wakuba ukwazi oku, uya kuziva ukhululekile kakhulu.

Yintoni iVan der Woude Syndrome?

Ngamafutshane, iVan der Woude Syndrome sisifo esingaqhelekanga, esizuzwe njengelifa esichaphazela indlela umlomo womntwana okhula ngayo ngelixa esesesibelekweni. Abantwana abanale meko banemingxuma emincinci (imingxunya yemilebe) kwimilebe yabo engezantsi. Ngamanye amaxesha le mingxuma inokuphakama kancinci. Basenokuba nomlomo oqhekekileyo, intlama eqhekekileyo, okanye zombini. Abanye abantwana banokuba namazinyo athile angekaphuhli.

Ngamanye amaxesha oogqirha bayibiza le meko ngokuthi “yi-lip pit syndrome.” Yaqala ukuchazwa ngugqirha waseFransi uJ. Demarquay malunga nowe-1845. Nangona kunjalo, yanikwa igama elithi “Vander Woude” ukuhlonipha uGqr. Anne Van der Woude, owayifunda kakhulu ekuqaleni kweminyaka yoo-1950.

Yintoni iCleft Lip kunye neCleft Palate?

Masiyicacise le nto. I-Cleft lip kunye ne-cleft palate ziziphene zokuzalwa ezenzeka ngexesha lokukhula komntwana esibelekweni. Umntwana unokuba nenye yezi meko okanye zombini.

• I-Cleft Lip: Oku kwenzeka xa amacala omabini omlebe ongaphezulu womntwana wakho engadibani kakuhle. Oku kunokubangela umsantsa omncinci okanye ukuqhekeka kumlebe ongaphezulu. Oku kunokuchaphazela neentsini.
• I-Cleft Palate: Oku kwenzeka xa umntwana enomngxuma okanye eqhekekile eluphahleni lomlomo wakhe, nokuba yinxalenye engaphambili yenkalakahla, eyinxalenye yamathambo, okanye ngasemva kwenkalakahla, eyinxalenye yezicubu ezithambileyo, okanye kuzo zombini iindawo.

Ixhaphake kangakanani iVan der Woude Syndrome?

Esi sisifo esingaqhelekanga ngokwenene. Ukuba ujonga kwihlabathi liphela, esi sifo sichaphazela umntu omnye kuphela kubantu abayi-35,000 ukuya kwi-100,000. Ngoko ke ungabona ukuba sinqabile kangakanani esi sifo.

Yintoni isizathu soku?

Ngoku makhe sibone ukuba yintoni ebangela iVander Wood Syndrome. Isizathu esiphambili soku kukutshintsha kwemfuza.

Yonke into emzimbeni wethu ilawulwa luthotho lwemiyalelo emincinci. Oku sikubiza ngokuba yi-'genes'. Kufana neresiphi. Ngoko ke, i-gene ekhethekileyo ebizwa ngokuba yi-'IRF6' (Interferon Regulatory Factor 6) ibandakanyeka kwi-Vander Wood syndrome.Le gene ye-'IRF6' isebenza njenge-'engineer' eyakha izinto ezifana nentloko yomntwana, ubuso, ulusu, kunye namalungu esini. Nguye owenza izithako ze-'protein' ezifunekayo ukuze ezi zinto zikhule ngokufanelekileyo.

Khawucinge nje, kwenzeka ntoni ukuba kukho utshintsho oluncinci, okanye singathi 'utshintsho', kwimiyalelo esebenza ngayo le 'njineli', kwi-'IRF6` gene? Eso sithako 'seprotheyini' asiveliswa ngomlinganiselo ofunekayo. Kulapho ezinye iindawo zobuso bomntwana, ingakumbi imilebe kunye nenkalakahla, zingakhuli kakuhle. Uyaqonda?

Abantwana abanale meko bazuza ilifa le gene eguquliweyo ethi `IRF6` kumzali omnye kuphela, nokuba ngumama okanye ngutata. Njengoko izazinzulu ziqhubeka nophando ngale nto, kusenokwenzeka ukuba ezinye iigenes ezibandakanyekayo zinokufunyanwa kwixesha elizayo.

Ngubani osengozini enkulu yokuphuhlisa oku?

I-Vander Wood syndrome yimeko ewela phantsi koluhlu lwe- "autosomal dominant disorder ." Ngamafutshane, oku kuthetha ukuba ukuba omnye wabazali une-gene mutation ebangela esi sifo, umntwana unokusifumana njengelifa.

Oku kuthetha ukuba ukuba umzali ngamnye unotshintsho lwezakhi zofuzo, umntwana ngamnye abanaye unethuba elingama-50% lokufumana esi sifo. Ngokwesiqhelo, umzali ofumana esi sizukulwana naye unesifo. Nangona kunjalo, kunqabile kakhulu ukuba umntwana afumane utshintsho lwezakhi zofuzo aze angabonakalisi zimpawu zesifo seVander Wood.

Zithini iimpawu zale meko?

Kukho iimpawu eziphambili zeVander Wood Syndrome, ekufuneka siziqaphele.

• Umlomo oqhekekileyo, incasa eqhekekileyo, okanye zombini: Olu lolona phawu lubalaseleyo nolucacileyo.
• Imingxuma okanye iindunduma zemilebe: Iindunduma ezincinci okanye iindunduma zinokuvela kwelinye okanye kumacala omabini omlebe ongezantsi. Ngamanye amaxesha kunokubakho enye okanye ezingaphezulu kwezi.
• Umlebe ongezantsi ofumileyo: Ngenxa yokuba ezi 'lip pits' zidibene nee-salivary glands okanye ii-mucus glands, umlebe ongezantsi usenokubonakala umanzi kwaye umanzi.
• Amazinyo angekhoyo (hypodontia) okanye iingxaki nge-enamel yamazinyo (i-dental hypoplasia): Abanye abantwana basenokuba abanamazinyo asisigxina elinye okanye ngaphezulu. Basenokuba neengxaki ezithile ngophuhliso lwe-enamel, isigqubuthelo sangaphandle esikhuselayo samazinyo.

Ziziphi iingxaki ezinokwenzeka ngenxa yale meko?

Abanye abantwana abane-Vander Wood syndrome banokuba nezinye iingxaki, kodwa ayinguye wonke umntu onazo.

• Ukulibaziseka kokukhula: Abanye abantwana banokulibaziseka ekukhuleni kwabo ngokubanzi.
• Ukuphazamiseka kwengqondo okuncinci: Kusenokubakho ukuphazamiseka okuncinci kwizakhono zokufunda.
• Ukulibaziseka kokuthetha nolwimi: Iingxaki zemilebe nenkalakahla zinokubangela ukulibaziseka kokuthetha nophuhliso lolwimi.

Ngaba unokukubona oku ngelixa umntwana esesibelekweni?

Ewe, ngamanye amaxesha kunokwenzeka.

I-ultrasound scan ngelixa umntwana esesesibelekweni ngamanye amaxesha inokubona umlebe oqhekekileyo, kwaye, kunqabile, i-cleft palate. Kukwakho novavanyo olukhethekileyo lokujonga utshintsho lwezakhi zofuzo lwe-IRF6. Ezi zibizwa ngokuba luvavanyo lokukhulelwa.

• Isampuli yeChorionic villus (CVS): Oku kuquka ukuthatha isampuli encinci yezicubu kwi-placenta uze uyivavanye.
• I-amniocentesis yemfuza: Oku kuquka ukuthatha isampuli yolwelo lwe-amniotic olujikeleze umntwana kunye nokuvavanya ii-genes zakhe.

Olu vavanyo lunokuqinisekisa ukuba kukho utshintsho lwemfuza.

Oku kumiselwa njani emva kokuba umntwana ezelwe?

Ukuba umntwana wakho unemilebe eqhekekileyo, i-cleft palate, okanye i-lip pits emva kokuzalwa, ugqirha wakho usenokucebisa uvavanyo lwe-gene . Oku kudla ngokwenziwa ngokuthatha isampuli yegazi. Olu vavanyo luya kuqinisekisa ukuba unayo na i-IRF6 gene mutation ebangela i-Vander Wood syndrome. Ngamanye amaxesha wena neqabane lakho ninokucelwa ukuba nenze olu vavanyo lwe-genetic ukuze niqonde imbali ye-genetic yosapho lwenu.

Indlela yokunyanga oku?

Unyango oluphambili lwale meko lutyando . Ungakhathazeki, olu tyando ngoku luhambele phambili kakhulu.

• Kufuneka utyando ukuze kuvalwe izikhewu phakathi komlomo oqhekekileyo kunye nencakuba eqhekekileyo, oko kukuthi, ukuze zilungiswe.
• Utyando lomlomo oluqhekekileyo ludla ngokwenziwa xa umntwana ephakathi kweenyanga ezi-2 nezi-6 ubudala.
• Utyando lokulungisa i-cleft palate ludla ngokwenziwa kamva, oko kukuthi, xa umntwana ephakathi kweenyanga ezili-9 neli-18 ubudala .
• Ukuba unezo 'zimbobo zemilebe' esithethe ngazo, kwenziwa utyando lokususa ezo mbobo kunye nokuthintela amathe kunye ne-mucus ukuba ingangeni emilebeni. Olu tyando ngamanye amaxesha lunokwenziwa ngaxeshanye notyando lokulungisa 'i-cleft lip' okanye 'i-cleft palate'.

Zeziphi ezinye iindlela zonyango ezikhoyo?

Ukongeza kotyando, kukho nezinye iindlela zonyango ezinokunceda umntwana.

• Ubunzima bokutya: Iintsana ezinemilebe eqhekekileyo okanye i-cleft palate zinokuba nobunzima bokuncanca nokutya de kube lutyando. Ukuba oku kuyenzeka, unokufuna ukubona ingcali yokutya okanye ingcali yolwimi lokuthetha ukuze ufumane iingcebiso malunga neebhotile ezikhethekileyo zokutya kunye neendlela zokutyisa.
• Unyango lokuthetha: Abanye abantwana basenokufumana ubunzima bokuthetha emva kotyando. Unyango lokuthetha lunokuba luncedo kakhulu kwiimeko ezinjalo.
• Unyango lwamazinyo:Nokuba unamazinyo angekhoyo okanye uneengxaki nge-enamel yamazinyo akho, kubalulekile ukuba uhlolwe amazinyo rhoqo ngugqirha wamazinyo okhethekileyo kwaye unakekele amazinyo akho neentsini kakuhle. Kusenokufuneka ufumane amazinyo okufakelwa okanye unyango lwe-orthodontic ukuze kuthathelwe indawo amazinyo angekhoyo.

Ngaba iVan der Woude Syndrome inokuthintelwa?

Le yimeko yemfuza, ngoko ke kunzima ukuyithintela ngokupheleleyo. Nangona kunjalo, ukuba uyazi ukuba wena okanye iqabane lakho ninotshintsho lwemfuza oluyibangelayo, kulungile ukubona umcebisi wemfuza ngaphambi kokuba nibe nomntwana.

Umcebisi ngezemfuza angakuchazela umngcipheko wokudlulisela olu tshintsho lwezemfuza kwizizukulwana ezizayo, kwaye zeziphi iindlela ezinokusetyenziswa ukunciphisa loo mngcipheko (umzekelo, izinto ezifana ne-'PGD' - `Ukuxilongwa Kwezemfuza Ngaphambi Kokufakelwa`, okwenziwa ngetekhnoloji efana ne-'IVF`).

Liyintoni ikamva lomntu onesi sifo?

Oku kusenokuvakala kusoyikisa, kodwa kwiimeko ezininzi, le meko inokunyangeka ngempumelelo. Utyando lokulungisa i-cleft lip kunye ne-cleft lip luphumelele kakhulu. Zininzi izinto onokuzenza ekhaya ukunceda umntwana wakho aphile ngokukhawuleza emva kotyando.

Uninzi lwabantwana luphila kakuhle emva kotyando kwaye baphila ubomi obuqhelekileyo, obupheleleyo njengabanye abantwana. Ukuba banengxaki yokuthetha, unyango lokuthetha lunokunceda. Ngoko ke kubalulekile ukuba nethemba.

Ufanele uye nini kugqirha?

Ukuba umntwana wakho unenye yezi ngxaki zilandelayo, bonana nogqirha ngokukhawuleza:

• Ubunzima bokuphefumla
• Ubunzima bokutya
• Ubunzima bokuthetha
• Ubunzima bokuginya

Ukuba unazo ezi zinto, kubaluleke kakhulu ukufuna ingcebiso kagqirha ngokukhawuleza.

Yintoni omele uyibuze ugqirha wakho?

Xa usiya kugqirha, ungabuza le mibuzo:

• Yintoni ebangela ukuba umntwana wam abe neVander Wood syndrome?
• Ngaba umntwana wam udinga utyando? Ukuba kunjalo, luza kwenziwa nini?
• Ziziphi ezinye iindlela zonyango ezikhoyo ezinokunceda umntwana wam?
• Ndingenza ntoni ekhaya ukunceda ngeengxaki zokutya nokuthetha?
• Ngaba mna nomyeni wam kufuneka siye kuvavanyo lwemfuza?
• Ngaba kufuneka ndiqaphele iimpawu zeengxaki?

Buza le mibuzo uze ucacise yonke into esengqondweni yakho.

Yintoni umahluko phakathi kweVan der Woude Syndrome kunye nePopliteal Pterygium Syndrome?

Oku nako kuyinkimbinkimbi kancinci, kodwa kulungile ukwazi ngokufutshane.

I-Popliteal Pterygium Syndrome (PPS) ikwayimeko elawulayo ye-autosomal. Njenge-Vander Wood Syndrome, ibangelwa kukuguquka kwejini efanayo, i-IRF6. Nangona kunjalo, i-PPS ixhaphake kakhulu kune-Vander Wood Syndrome.Ayifumaneki rhoqo (ichaphazela umntu omnye kuphela kubantu abangama-300,000 kubemi behlabathi).

Ukongeza kwiimpawu zeVander Wood syndrome, ezifana ne-cleft lip, i-cleft palate, kunye ne-lip pits, umntwana one-'PPS' unokuba nezinye iimpawu ezininzi:

• Kusenokubakho izicwili ezingaphezulu ezinamathele phakathi kweenkophe eziphezulu nezisezantsi, okanye phakathi kwemihlathi.
• Kusenokubakho imiphetho yesikhumba phezu kweenyawo ezinkulu.
• I-labia majora, inxalenye engaphandle yesini kumantombazana, ayikhuli kakuhle.
• Amasende abafana akakafiki ezantsi.
• Kusenokubakho iintambo zesikhumba emva kwamadolo okanye phakathi kweminwe okanye iinzwane (ezikwabizwa ngokuba yi-syndactyly).

Okokugqibela, yintoni ekufuneka uyikhumbule (Umyalezo Wokuya Ekhaya)

Kuqhelekile ukuba lusizi, ukhathazeke, kwaye ucaphuke xa ufumanisa ukuba umntwana wakho uneempawu ezingaqhelekanga zobuso, ezifana ne-'lip pits', 'cleft lip', okanye i-'cleft palate'. Njengomzali, akukho nto imbi ngokuziva ngaloo ndlela.

Kodwa into ebalulekileyo kukuba uninzi lwezi meko lunokunyangeka ngempumelelo. Utyando lunokulungisa uninzi lwale nguqu yomzimba, luncede umntwana wakho akhule kakuhle, adlale nabanye, afunde, kwaye aphile ubomi obuqhelekileyo.

Ukuba umntwana wakho unengxaki yokutya okanye yokuthetha, ungafuna uncedo lweengcali. Ukuba kukho naziphi na iingxaki zamazinyo, kubalulekile ukufuna iingcebiso zamazinyo rhoqo.

Ukuba umntwana wakho une-Vander Wood syndrome, kubalulekile ukubona umcebisi wezemfuza ukuze athethe ngendlela utshintsho lwezemfuza olubangele oku olunokuchaphazela ngayo izizukulwana ezizayo kunye nezinto onokukhetha kuzo. Awuwedwa, kwaye kukho oogqirha abaninzi, abagqirha bezonyango, kunye nabacebisi abanokukunceda kolu hambo.

Isifo sikaVan der Woude, iimingxunya zemilebe, imilebe eqhekekileyo, i-cleft palate, i-IRF6 gene, utshintsho lwemfuza, iziphene zokuzalwa, utyando, impilo yabantwana, ingcebiso ngemfuza