Yu smɔl pikin gɛt dɛn chenj ya na in fes? Lɛ wi tɔk bɔt Van der Woude Syndrome!

Yu pikin gɛt smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl. Ɔ i gɛt klip na in lip ɔ in palata? Sɔntɛnde, yu kin ivin si tut we nɔ de? I rili nɔmal fɔ mek yu, as mama ɔ papa, fil bad bad wan ɛn wɔri we yu si dɛn tin ya. Bɔt nɔ wɔri. Tide wi go tɔk ditayli bɔt wetin kin mek dɛn tin ya ɛn wetin dɛn kin du bɔt dɛn. We yu dɔn no bɔt dis, yu go fil bad bad wan.

Wetin na di sik we dɛn kɔl Van der Woude Sindrom?

Fɔ tɔk am simpul wan, Van der Woude Syndrome na wan sik we nɔ kin apin so ɔltɛm, we pɔsin kin gɛt frɔm in mama ɛn papa, we kin afɛkt di we aw pikin in mɔt de divɛlɔp we dɛn stil de na di bɛlɛ. Pikin dεm we gεt dis kכndyushכn gεt sכm sכm pit dεm (lip pit) na dεn lכw lip dεm. Sɔntɛnde, dɛn ol dɛn ya kin ay smɔl. Dɛn kin gɛt bak lip we skata, palata we skata, ɔ ɔl tu. Sɔm pikin dɛn kin gɛt sɔm tit dɛn bak we nɔ de gro yet.

Sɔntɛnde, dɔktɔ dɛn kin kɔl dis sik "lip pit syndrome." Na wan Frɛnch dɔktɔ we nem J. Demarquay bin tɔk bɔt am fɔ di fɔstɛm arawnd 1845. Bɔt dɛn gi am di nem "Vander Woude" fɔ ɔnɔ Dɔktɔ Anne Van der Woude, we bin stɔdi am bɔku bɔku wan insay di fɔs 1950 dɛm.

Wetin na Klɛft Lip ɛn Klɛft Palat?

Mek wi get dis strait. di lip we kכl εn di palata we kכl na di bכdi we de apin we di pikin de divεlכp na di bεlε. Bebi kin gɛt wan pan dɛn sik ya ɔ ɔl tu.

• Klɛft Lip: Dis na we di tu say dɛn na yu pikin in ɔpa lip nɔ de kam togɛda fayn fayn wan. Dis kin mek smɔl gap ɔ krak na di ɔp lip. Dis kin afɛkt di gɔm dɛn bak.
• Cleft Palate: Dis na we pikin gɛt gap ɔ split na di ruf na in mɔt, ɔ na di frɔnt pat na di palata, we na di bon pat, ɔ na di bak pat na di palata, we na di sɔft tisu pat, ɔ na di tu pat.

Aw kɔmɔn tin na Van der Woude Syndrome?

Dis na rili wan sik we nɔ kin apin so ɔltɛm. If yu luk ɔlsay na di wɔl, dis sik kin jɔs afɛkt lɛk wan pan ɛvri 35,000 to 100,000 pipul dɛn. So yu kin si aw dis nɔ kin apin so ɔltɛm.

Wetin na di rizin fɔ dis?

Naw lɛ wi si wetin kin mek pɔsin gɛt Vander Wood Syndrome. Di men rizin fɔ dis na we di jɛnɛtiks chenj.

Na sɔm smɔl smɔl tin dɛn de kɔntrol ɔltin na wi bɔdi. Dis na wetin wi kin kɔl `jin`. I tan lɛk se na rɛsipɛkt. so, wan spεshal jin we dεn kכl `IRF6` (Interferon Regulatory Factor 6) de involv insay Vander Wood sεndrכm.dis `IRF6` jin de akt lεk `εnjinia` we de bil tin dεm lεk pikin in ed, fes, skin, εn jεnital. na di wan we de mek di `protein` ingridiεnt dεm we nid fכ dεn tin ya fכ gro fayn fayn wan.

naw imajin, wetin go apin if sכm chenj de, כ wi kin se 'mכtεshכn', insay di instrכkshכn dεm we dis 'εnjinia' de wok wit, insay di `IRF6` jin? dat `protein' ingridiεnt nכ de prodyuz di כmכnt we dεn nid. Na da tɛm de sɔm pat dɛn na di pikin in fes, mɔ di lip ɛn palata nɔ de divɛlɔp fayn. Yu ɔndastand?

di pikin dεm we gεt dis kכndyushכn kin gεt di כltεr `IRF6` jin frכm wan mama εn papa nכmכ, we na di mama כ di papa. As sayɛnsman dɛn de kɔntinyu fɔ du risach bɔt dis, i pɔsibul se dɛn go fɛn mɔ jin dɛn we gɛt fɔ du wit dis tumara bambay.

Udat de pan big risk fɔ gɛt dis?

Vander Wood syndrome na wan ɔtosomal dominant dizayd . Fɔ tɔk am simpul wan, dis min se if ɛni wan pan dɛn mama ɛn papa gɛt di jin we de mek di sik chenj, di pikin kin gɛt am.

dis min se if wan pan di mama εn papa gεt di jin mכtεshכn, εvri pikin we dεn gεt gεt 50% chans fכ gεt di kכndyushכn. Bɔku tɛm, di mama ɔ papa we gɛt di jin kin gɛt di sik bak. Bɔt, na smɔl tɛm nɔmɔ, pikin kin gɛt di jin muteshon ɛn nɔ sho di sayn dɛm fɔ Vander Wood syndrome.

Wetin na di sayn dɛm fɔ dis sik?

Bɔrku men sayn dɛm de fɔ Vander Wood Syndrome, wae wi fɔ no bɔt.

• Kleft lip, cleft palate, ɔ ɔl tu: Dis na di tin we de sho mɔ ɛn we klia pas ɔl.
• Lip pit ɔ mawnd: Smɔl dipreshɔn ɔ mawnd kin apia na wan ɔ ɔl tu di say dɛn na di lip we de dɔŋ. Sɔntɛnde, wan ɔ mɔ pan dɛn tin ya kin de.
• mכst lכw lip: biכs dεn `lip pit` dεm ya kכnekt to εni wan pan di saliva gland dεm כ di mכkus gland dεm, di lכw lip kin lεk se i mכst εn wet כltεm.
• Tit we nɔ de (hypodontia) ɔ prɔblɛm wit di tut ɛnamel (dental hypoplasia): Sɔm pikin dɛn kin mis wan ɔ mɔ tit we go de sote go. Dɛn kin gɛt sɔm prɔblɛm bak wit di divɛlɔpmɛnt fɔ di ɛnamel, we na di kɔba we de protɛkt di tit dɛn we de na do.

Us kɔmplikɛshɔn kin apin bikɔs ɔf dis kɔndishɔn?

Sɔm pikin dɛn we gɛt Vander Wood syndrome kin gɛt ɔda prɔblɛm dɛn bak, bɔt nɔto ɔlman gɛt dɛn tin ya.

• Divεlכpmεnt delay: sכm pikin dεm kin gεt sכm delay pan dεn כvala divεlכpmεnt.
• Mild cognitive impairment: Sɔm smɔl smɔl impairment kin de pan di lanin abiliti.
• Di delay fɔ tɔk ɛn langwej: Prɔblɛm wit di lip ɛn palata kin mek di tɔk ɛn langwej delay.

Yu kin no dis we di pikin de na di bɛlɛ?

Yɛs, sɔntɛnde i pɔsibul.

כltra saund skan we di pikin stil de insay di bεlε, sכmtεm i kin no se in lip skata εn, sכmtεm, i kin no se in palata kכl. spεshal tεst dεm de bak fכ chεk fכ di IRF6 jin mכtεshכn. Dɛn kɔl dɛn tin ya tɛst bifo dɛn bɔn pikin.

• di chorionic villus sampling (CVS): dis involv fכ tek sכm sכm sכm tisu frכm di plasεnta εn tεst am.
• jεnεtik amniocentesis: dis involv fכ tek sεmpl fכ di amniotic fluid we de rawnd di pikin εn tεst in jin dεm.

dis tεst dεm kin kכnfכm if di jεnεtik mכtεshכn de.

Aw ɛksaktɔli dɛn kin no dis afta dɛn bɔn di pikin?

If yu pikin in lip skata, in palata swɛt, ɔ in lip pit afta dɛn bɔn am, i go mɔs bi se yu dɔktɔ go tɛl yu fɔ du tɛst fɔ no if i gɛt jin . Bɔku tɛm, dɛn kin du dis bay we dɛn tek blɔd sɛmpul. dis tεst go no fכ sכri if yu gεt di IRF6 jin mכtεshכn we de mek Vander Wood sεndrכm. Sɔntɛnde, dɛn kin aks yu ɛn yu patna fɔ du dis jenɛtik tɛst fɔ ɔndastand yu famili in jɛnɛtik istri.

Aw fɔ trit dis?

Di men tritmɛnt fɔ dis sik na ɔpreshɔn . Nɔ wɔri, dis ɔpreshɔn dɔn rili go bifo naw.

• Dɛn nid ɔpreshɔn fɔ lɔk di say dɛn we de bitwin di lip we skata ɛn di palata we skata, dat na fɔ mek dɛn fayn.
• כlsay na di bכdi dεn kin du klif lip כpεrayshכ n we di pikin ol bitwin 2 εn 6 m כnt.
• di ɔpreshɔn fɔ mek di palata we dɔn skata, dɛn kin du am leta, dat na we di pikin ol bitwin 9 ɛn 18 mɔnt .
• If yu gɛt dɛn `lip pit` we wi bin tɔk bɔt, dɛn kin du ɔpreshɔn fɔ pul dɛn ɛn stɔp di saliva ɛn mucus fɔ flɔ insay di lip. dis כpεrayshכn kin bi sכmtεm di sem tεm we dεn de du di כpεrayshכn fכ ripa di `cleft lip` כ `cleft palate`.

Us ɔda tritmɛnt dɛn de?

Apat frɔm ɔpreshɔn, ɔda tritmɛnt dɛn de we kin ɛp di pikin.

• I nɔ izi fɔ it: Bebi dɛn we gɛt lip we skata ɔ we in palata skata kin gɛt prɔblɛm fɔ sok ɛn it te dɛn du di ɔpreshɔn. If dis apin, yu go nid fɔ go to dɔktɔ we de mɛn pipul dɛn we de it tin dɛn ɔ we de mɛn pipul dɛn we de tɔk langwej fɔ advays yu bɔt spɛshal bɔtul fɔ it ɛn aw fɔ gi pikin tin fɔ it.
• Spich therapy: Sɔm pikin dɛn kin stil gɛt prɔblɛm fɔ tɔk afta dɛn dɔn du dɛn ɔpreshɔn. Spich therapy kin bi big ɛp pan dɛn kayn kes dɛm ya.
• Tritmɛnt fɔ mɛn dɛn tit:Ilɛksɛf yu gɛt tit we nɔ de ɔ yu gɛt prɔblɛm wit yu tut inɛmel, i impɔtant fɔ de chɛk yu tit ɔltɛm wit spɛshal dɛntist ɛn tek kia ɔf yu tit ɛn gam gud gud wan. Yu kin nid bak fɔ gɛt dɛnt ɔ ɔtodɔnt tritmɛnt fɔ chenj di tit dɛn we nɔ de.

Yu tink se dɛn kin ebul fɔ avɔyd di sik we dɛn kɔl Van der Woude Syndrome?

Dis na tin we pɔsin kin gɛt we i kam pan in jɛnɛtiks, so i nɔ kin izi fɔ mek dɛn nɔ gɛt am kpatakpata. Bɔt if yu no se yu ɔ yu patna gɛt di jin we de mek i chenj, i go fayn fɔ mek yu go to pɔsin we de advays yu bɔt yu jɛnɛtiks bifo yu bɔn pikin.

jεnεtik kכnsεlכ kin εksplen to yu di risk fכ pas dis jεnεtik mכtεshכn to fכs jεnereshכn, εn us mεtכd dεn kin yus fכ ridyus da risk de (fכ egzampl, tin dεm lεk `PGD` - `Preimplantation Genetic Diagnosis`, we dεn kin du wit tεknכlכji dεm lεk `IVF`).

Wetin na di tumara bambay fɔ pɔrsin wae gɛt dis sik?

Dis kin tan lɛk se yu de mek yu fred, bɔt bɔku tɛm, dɛn kin trit dis sik fayn fayn wan. Ɔpreshɔn fɔ kɔrɛkt klif lip ɛn klif lip kin rili fayn. Bɔku tin dɛn de we yu kin du na os fɔ ɛp yu pikin fɔ wɛl kwik kwik wan afta dɛn dɔn du am ɔpreshɔn.

Bɔku pikin dɛn kin du wɛl afta dɛn dɔn ɔpreshɔn dɛn ɛn dɛn kin liv nɔmal, ful layf lɛk ɔda pikin dɛn. If i nɔ izi fɔ dɛn fɔ tɔk, di tritmɛnt we dɛn de yuz fɔ tɔk kin ɛp. So i impɔtant fɔ gɛt op.

Ustɛm yu fɔ go to dɔktɔ?

If yu pikin gɛt ɛni wan pan dɛn prɔblɛm ya, go to dɔktɔ wantɛm wantɛm:

• I nɔ kin izi fɔ yu fɔ blo
• I nɔ izi fɔ it
• I nɔ izi fɔ tɔk
• I nɔ izi fɔ swɛla

If yu gɛt dɛn tin ya, i rili impɔtant fɔ go to dɔktɔ wantɛm wantɛm.

Wetin yu fɔ aks yu dɔktɔ?

We yu go si dɔktɔ, yu kin aks dɛn kwɛstyɔn ya:

• Wetin kin mek mi pikin gɛt Vander Wood syndrome?
• Yu tink se dɛn nid fɔ du ɔpreshɔn pan mi pikin? If na so i bi, ustɛm dɛn go du am?
• Us ɔda tritmɛnt dɛn de we go ɛp mi pikin?
• Wetin a kin du na os fɔ ɛp wit prɔblɛm dɛn we a de it ɛn tɔk?
• Yu tink se mi ɛn mi man fɔ gɛt tɛst fɔ no if wi gɛt jɛnɛtiks?
• A fɔ no bɔt di sayn dɛn we de sho se a gɛt prɔblɛm dɛn?

Aks dɛn kwɛstyɔn ya ɛn klia ɔl wetin de na yu maynd.

Wetin na di difrɛns bitwin Van der Woude Sindrom ɛn Popliteal Pterygium Syndrome?

Dis na tin bak we kɔmplikt smɔl, bɔt i fayn fɔ no insay shɔt tɛm.

Popliteal Pterygium Syndrome (PPS) na כtosomal dכminant kכndyushכn bak. lεk Vander Wood Syndrome, i de kכz fכ wan mכtεshכn na di sem jin, IRF6. Bɔt PPS kin bɔku pas Vander Wood Syndrome.Rare (na wan pan ɔl 300,000 pipul dɛm nɔmɔ de afɛkt di pipul dɛm na di wɔl).

Apat frɔm di sayn dɛm fɔ Vander Wood syndrome, lɛk cleft lip, cleft palate, ɛn lip pit, pikin we gɛt `PPS` kin gɛt sɔm ɔda simptom dɛm:

• εksεs tisu kin de bitwin di כp εn lכw aylid dεm, כ bitwin di jaw dεm.
• Sɔntɛm, fold dɛn kin de na di skin oba di big fut finga dɛn.
• di labia majora, we na di כta pat pan di vagina na gyal pikin, nכ de divεlכp fayn.
• Bɔy pikin dɛn tɛstikul nɔ dɔn kam dɔŋ.
• di wεb dεm we de fכ di skin kin de bihayn di kכn dεm כ bitwin di finga dεm כ di tכd dεm (dεn kin kכl am bak syndactyly).

Fɔ dɔn, wetin fɔ mɛmba (Take-Home Message) .

I nɔmal fɔ fil sɔri, wɔri, ɛn ivin vɛks we yu kam fɔ no se yu pikin gɛt sɔntin we nɔ kɔmɔn na in fes, lɛk `lip pit`, `cleft lip`, ɔ `cleft palate`. As mama ɔ papa, natin nɔ bad fɔ fil da we de.

Bɔt di impɔtant tin na dat, dɛn kin trit bɔku pan dɛn sik ya fayn fayn wan. Ɔpreshɔn kin kɔrɛkt bɔku pan dɛn chenj ya na in bɔdi, ɛn ɛp yu pikin fɔ gro fayn, ple wit ɔda pipul dɛn, lan, ɛn liv nɔmal layf.

If i nɔ izi fɔ yu pikin fɔ it ɔ tɔk, yu kin go to spɛshal ɛp. If ɛni prɔblɛm de wit yu tit, i impɔtant fɔ go to advays to yu tit ɔltɛm.

If yu pikin gɛt Vander Wood syndrome, i impɔtant fɔ go to wan jenɛtik kɔlnɔ fɔ tɔk bɔt aw di jenɛtik mutation we mek i gɛt am kin afɛkt di fyuchu jɛnɛreshɔn ɛn wetin yu go ebul fɔ du. Nɔto yu wan de, ɛn bɔrku dɔktɔ, tritmɛnt, ɛn advaysa de wae kin ɛp yu pan dis joyn.

` Van der Woude Syndrome, lip pit, cleft lip, cleft palate, IRF6 jin, jεnεtik mכtεshכn, bכn difεkt, כpεrayshכn, pikin dεm hεlth, jεnεtik kכnsεl