I fate hian an hmelah heng inthlak danglamna te hi a nei em? Van der Woude Syndrome chungchang hi han sawi ila!

I naute hian a hmui hnuai lamah hian dimples te te a nei em? A nih loh leh a hmui emaw, a hmui emaw a cleft em? A chang chuan ha bo pawh i hmu thei em? Nu emaw pa emaw angin heng thilte hi i hmuh hian hlauhna leh lungkhamna nasa tak i neih hi thil pangngai tak a ni. Mahse, lungngai suh. Vawiin hian heng thilte hi eng thil nge a thlen tih leh eng nge tih theih tih chipchiar takin kan sawi dawn a ni. Chu chu i hriat chian hnuah chuan hahdamna nasa tak i nei ang.

Van der Woude Syndrome hi eng nge ni?

A awlsam zawngin sawi ila, Van der Woude Syndrome hi natna awm lo, rochun atanga lo piang a ni a, nausen pum chhunga an la awm laia an hmui lo thanglian dan a nghawng a ni. Hetiang natna vei naupangte hian an hmui hnuai lamah khur te te (lip pit) an nei thin. A chang chuan heng khur te hi a sang deuh thei bawk. Tin, hmui hrual emaw, hmui hrual emaw, a pahnih emaw pawh an nei thei bawk. Naupang thenkhat chuan ha thenkhat la sei lo an nei thei bawk.

Doctor-te chuan he natna hi "lip pit syndrome" an ti \hin. French doctor J. Demarquay-a'n kum 1845 vel khan a sawi hmasa ber a, mahse, kum 1950 chho vela nasa taka zirchiangtu Dr. Anne Van der Woude chawimawina atan "Vander Woude" tih hming hi an vuah a ni.

Cleft Lip leh Cleft Palate tih hi eng nge ni?

Hei hi i sawi dik ang u. Cleft lip leh cleft palate hi piansualna a ni a, nausen pum chhunga naute lo seilian laia lo awm thin a ni. Naute hian heng zinga pakhat emaw, a pahnih emaw hi a nei thei a ni.

• Cleft Lip: Hei hi i fa hmui chunglam sir lehlamah a inzawm tha lo a nih chuan a ni. Hei hian hmui chunglam ah gap tlem emaw crack emaw a siam thei. Hei hian gums a nghawng thei bawk.
• Cleft Palate: Hei hi naupangin an hmui chung lamah gap emaw, inthenna emaw a neih hian a ni a, chu chu a hmui hmalam, ruh lam a ni emaw, a hnunglam, soft tissue part emaw, a hmun pahnihah emaw a ni.

Van der Woude Syndrome hi engtiang chiahin nge a awm?

Hei hi a takah chuan thil awm lo tak a ni. Khawvel hmun hrang hrang i en chuan he natna hian mi 35,000 atanga 100,000 zinga pakhat vel chauh a nghawng a ni. Chuvangin hei hi a tlem zia chu i hmu thei ang.

Hei hi eng nge a chhan?

Tunah chuan Vander Wood Syndrome thlentu chu eng nge ni tih i lo en ang u. Hei hi a chhan ber chu genetic change vang a ni.

Kan taksaa thil awm zawng zawng hi thupek tenau tak tak hmanga thunun vek a ni. Hei hi `genes` kan tih chu a ni. Recipe ang mai a ni. Chuvangin, Vander Wood syndrome-ah hian gene bik `IRF6` (Interferon Regulatory Factor 6) tih chu a inrawlh a ni.He `IRF6` gene hian naute lu, hmai, vun, leh serh ang chi thil siamtu `engineer` angin hna a thawk a ni. Hengte hi a lo thang tha thei tur chuan `protein` ingredients mamawh tak tak siamtu a ni.

Tunah chuan han ngaihtuah teh, he ‘engineer’ hian a hnathawhna instruction-ah hian, `IRF6` gene-ah hian inthlak danglamna tlem a awm a, a nih loh leh ‘mutation’ kan ti thei a nih chuan eng nge thleng ang? Chu `protein' ingredient chu a mamawh zat a siam chhuak lo. Chu chu naute hmai hmun thenkhat, a bik takin hmui leh hmui te a lo thanglian tha tawk loh lai a ni. I hrethiam em?

Hetiang natna vei naupangte hian nu leh pa pakhat chauh, nu emaw pa emaw hnen atangin `IRF6` gene danglam chu an rochun thin. Scientist-te’n he thil hi an zirchian zel avangin nakin lawkah a kaihhnawih gene tam zawk hmuhchhuah a ni mai thei.

Tute nge hetiang hi vei theihna hlauhawm zawk?

Vander Wood syndrome hi ``autosomal dominant disorder '' category - ah a tla a ni.

Hei hian a awmzia chu nu leh pa pakhatin gene mutation an neih chuan an fa neih apiangin he natna hi an rochun theihna chance 50% an nei tihna a ni. A tlangpuiin, gene rochuntu nu leh pa pawhin he natna hi a nei ve tho. Mahse, a tlem hle a, naupang hian gene mutation hi a rochun thei a, Vander Wood syndrome symptoms a lantir lo.

Hetiang natna lan chhuah dan hi engte nge ni?

Vander Wood Syndrome natna lan chhuahna lian ber ber engemaw zat a awm a, chu chu kan hriat chian a ngai a ni.

• Cleft lip, cleft palate, a nih loh leh a pahnih: Hei hi a langsar ber leh langsar ber a ni.
• Lip pit emaw mounds: Lip pits emaw mounds te te chu hmui hnuai lam sir khatah emaw, a sir lehlamah emaw a lo lang thei. A châng chuan heng zinga pakhat emaw, a aia tam emaw pawh a awm thei.
• Moist lower lip: Heng `lip pits` te hi salivary glands emaw mucus glands emaw nena inzawm a nih avangin lower lip hi a hnim leh hnim angin a lang reng thei.
• Ha bo (hypodontia) emaw ha enamel lama harsatna (dental hypoplasia): Naupang thenkhat chuan ha awm reng pakhat emaw a aia tam emaw an hloh thei. Ha venna pawn lam khuhtu enamel lo awm danah pawh harsatna engemaw zat an nei thei bawk.

Hetiang dinhmun avang hian eng harsatna nge awm thei?

Vander Wood syndrome vei naupang thenkhat pawhin harsatna dang an nei thei a, mahse mi zawng zawng hian hengte hi an nei vek lo.

• Hmasawnna tlai: Naupang thenkhat chuan an thanlenna zawng zawngah tihkhawtlai engemaw zat an tawk thei.
• Mild cognitive impairment: Zirna thiamnaah hian mild impairment engemaw zat a awm thei.
• Thusawi leh tawng tihkhawtlai: Ka hmui leh hmui lama harsatna awm hian tawng leh tawng hmasawnna a tikhawtlai thei a ni.

Nausen pum chhunga a awm lai hian hei hi i hre thei em?

Ni e, a chang chuan a theih tho.

Naute chu a pum chhunga a la awm laiin ultrasound scan hian a chang chuan hmui hrual a hmu thei a, a tlem berah chuan hmui hrual a hmu thei bawk. IRF6 gene mutation awm leh awm loh enfiahna tur special test pawh a awm bawk. Chungte chu nau neih hma (prenatal test) an ti a.

• Chorionic villus sampling (CVS): Hei hi nausen atanga tissue sample te tak te lak a, test a ni.
• Genetic amniocentesis: Hei hi naute chhehvela amniotic fluid sample lak a, a genes test a ni.

Heng test te hian genetic mutation a awm leh awm loh a finfiah thei a ni.

Naute pian hnuah engtin nge hei hi hriat chian tak a nih?

I naute chu a pian hnua hmui hrual, hmui hrual, a nih loh leh hmui khur a neih chuan, i doctor chuan gene test neih a rawt mai thei . Hei hi thisen sample lak atanga tih a ni tlangpui. He test hian Vander Wood syndrome thlentu IRF6 gene mutation i nei em tih a chiang ang. A châng chuan nang leh i kawppui chu in chhûngkaw genetic history hriatthiam nân he genetic test hi nei tûrin an ti mai thei bawk.

Hei hi engtin nge kan enkawl ang?

Hetiang natna enkawlna ber chu operation a ni . Ngaihtuah buai suh, tunah chuan he surgery hi a hmasawn hle tawh.

• Hmai hrual leh hmui hrual inkar gap khar nan, chu chu siamthat nan operation neih a ngai a ni.
• Cleft lip surgery hi naute thla 2 leh thla 6 inkar a nih chuan tih a ni tlangpui.
• Cleft palate siamthatna tur surgery hi a hnuah tih a ni tlangpui a, chu chu naute thla 9 leh thla 18 inkar a nih chuan tih a ni .
• Kan sawi tawh `lip pits` te kha i neih chuan operation tih a ni a, chu chu lakchhuah a ni a, hmui chhunga hmui leh mucus luang chhuak tur chu tihtawp a ni. He surgery hi a chang chuan `cleft lip` emaw `cleft palate` emaw siamthatna tur surgery nen hian tih theih a ni.

Eng enkawlna dang nge awm?

Surgery bakah hian naupang tanpui thei tur enkawlna dang a awm bawk.

• Chaw pek harsatna: Naute hmui hrual emaw, hmui hrual emaw nei te chuan operation an neih hma loh chuan hnute ei leh ei harsatna an nei thei. Chutiang a nih chuan dietitian emaw, speech-language therapist emaw hnenah chaw pekna bottle bik leh chaw pek dan tur chungchangah thurawn i hmuh a ngai mai thei.
• Speech therapy: Naupang thenkhat chuan operation an neih hnuah pawh tawng harsa an la nei thei. Chutiang hunah chuan speech therapy hi a \angkai hle thei a ni.
• Ha enkawlna: 1.1.Ha tlachham emaw, ha enamel-a harsatna i neih emaw pawh nise, ha enkawltu specialist hnenah ha enfiah fo a pawimawh a, i ha leh hate uluk taka enkawl a pawimawh bawk. Ha bo thlak nan ha lem emaw, orthodontic treatment emaw i neih a ngai thei bawk.

Van der Woude Syndrome hi a veng thei ang em?

Hei hi genetic condition a nih avangin ven kim a harsa hle. Mahse, nangmah emaw, i kawppui emaw hian a thlentu gene mutation i nei tih i hriat chuan fa i neih hmain genetic counselor i pan hmasa phawt a tha.

Genetic counselor chuan he genetic mutation hi nakin lawka thlah kal zelte hnena a thlen theihna tur a hrilhfiah thei che a, chu hlauhawmna tihtlem nan eng method nge hman theih ang tih te (entir nan, `PGD` - `Preimplantation Genetic Diagnosis` ang chi thil, `IVF` ang chi technology hmanga tih a ni).

Hetiang dinhmun nei mi pakhat hmalam hun chu eng nge ni?

Hei hi hlauhawm tak angin a lang thei a, mahse a tam zawkah chuan he natna hi hlawhtling taka enkawl theih a ni. Cleft lip leh cleft lip siamthatna tur surgery hi a hlawhtling hle. I fa chu operation hnua a dam thuai theih nan in lamah thil tam tak i tih theih a ni.

Naupang tam zawk chu operation hnuah an tha hle a, naupang dang ang bawkin nun pangngai, famkim takin an hmang bawk. Thusawi harsa an tih chuan speech therapy hian a pui thei a ni. Chuvangin beiseina neih a pawimawh.

Engtikah nge doctor i hmuh ang?

I fain a hnuaia harsatnate hi a neih chuan doctor pan nghal rawh:

• Thâwk harsa
• Chaw ei harsat
• Thusawi harsa
• Chaw ei harsat

Heng thilte hi i neih chuan damdawi lam thurawn lak vat a pawimawh hle.

I doctor hnenah eng nge i zawh tur?

Doctor hmu tura i kal hian heng zawhnate hi i zawt thei ang:

• Eng thilin nge ka fa hian Vander Wood syndrome a neih chhan?
• Ka fa hian operation a mamawh em? Chutiang a nih chuan engtikah nge tih a nih ang?
• Ka fate ṭanpui thei tur enkawlna dang eng nge awm?
• Ei leh in lama harsatnate tanpui turin in lamah eng nge ka tih theih ang?
• Ka pasal nen hian genetic testing kan nei tur em ni?
• Complication symptoms te hi ka hriat chian tur em ni?

Heng zawhnate hi zawt la, i rilru a awm zawng zawng chu tifai rawh.

Van der Woude Syndrome leh Popliteal Pterygium Syndrome hi eng nge an danglamna?

Hei pawh hi a buaithlak deuh a, mahse a tawi zawngin hriat a tha.

Popliteal Pterygium Syndrome (PPS) hi autosomal dominant condition a ni bawk. Vander Wood Syndrome ang bawkin gene pakhat, IRF6-a mutation awm vang a ni. Mahse, PPS hi Vander Wood Syndrome aiin a tam zawk.Rare (khawvel mihring 300,000 zinga pakhat chauh a nghawng).

Vander Wood syndrome symptoms, hmui cleft, cleft palate, leh lip pits te bakah hian naupang `PPS` vei hian symptom dang engemaw zat a nei thei bawk:

• Mitmeng chunglam leh hnuai lam inkarah emaw, hmui inkarah emaw tissue tam lutuk a awm thei bawk.
• Ke ruh lian tak takah vun fold a awm thei.
• Hmeichhe naupang labia majora, vagina pawn lam chu a lo thang tha lo hle.
• Tlangval testicles chu a la chhuk lo.
• Khup hnung lamah emaw, kut zungtang emaw ke ruh inkar emaw (syndactyly an ti bawk) vun web a awm thei.

A tawp berah chuan hriat reng tur (Take-Home Message) .

I fain hmel danglam tak, `lip pits`, `cleft lip`, `cleft palate` te a nei tih i hriat chuan lungngaihna, lungngaihna, leh thinrim pawh hi thil pangngai tak a ni. Nu leh pa angin chutianga inhriat chu thil dik lo a awm lo.

Mahse a pawimawh ber chu heng natna tam tak hi hlawhtling taka enkawl theih a ni. Surgery hian heng taksa inthlak danglamna tam tak hi a siam tha thei a, i fa chu a lo thanglian tha thei a, midangte nen an inkhelhpui thei a, an zir thei a, nun pangngai a nei thei bawk.

I fain ei leh in lama harsatna a neih chuan specialist tanpuina i zawng thei ang. Ha lama harsatna a awm chuan ha lam thurawn lak fo a pawimawh hle.

I fa hian Vander Wood syndrome a vei a nih chuan, a thlentu genetic mutation hian engtin nge nakin lawkah a nghawng theih ang tih leh i duhthlan turte chu eng nge ni tih sawi turin genetic counselor hmuh a pawimawh hle. Nangmah chauh i ni lo va, he zinkawngah hian doctor, therapist leh counselor tam tak an awm bawk.

` Van der Woude Syndrome, lip pits, cleft lip, cleft palate, IRF6 gene, genetic mutations, nau piangsual, surgery, naupang hriselna, genetic counselling