So wo ba kumaa no wɔ nsakrae yi wɔ n’anim? Momma yɛnka Van der Woude Syndrome ho asɛm!

So wo ba no wɔ nsensanee nketenkete wɔ n’anofafa a ɛwɔ fam no so? Anaasɛ n’ano anaa n’anom apaapae? Ɛtɔ da mpo a, wutumi hu ɛse bi a ayera? Ɛyɛ ade a ɛfata koraa sɛ wo, sɛ ɛna anaa agya, sɛ wuhu saa nneɛma yi a, wobɛte ehu ne dadwen kɛse nka. Nanso mma ɛnhaw wo. Ɛnnɛ yɛbɛka nea ɛde saa nneɛma yi ba ne nea wobetumi ayɛ wɔ ho no ho asɛm kɔ akyiri. Sɛ wuhu eyi wie a, wobɛte ahotɔ kɛse nka.

Dɛn ne Van der Woude Yare no?

Simply put, Van der Woude Syndrome is a rare, inherited condition that affects the way a baby's mouth develops while they are still in the womb. Mmofra a wɔwɔ saa tebea yi wɔ amena nketewa (anofafa amena) wɔ wɔn anofafa ase. Ɛtɔ da bi a, saa amena yi betumi akɔ soro kakra. Ebia wɔn ano nso apaapae, wɔn anom apaapae, anaa n’abien nyinaa. Mmofra binom nso betumi anya sẽ bi a ennya nnyinii.

Ɛtɔ mmere bi a nnuruyɛfo frɛ tebea yi "anofafa amoa mu yare." Franseni oduruyɛfo J. Demarquay na odii kan kaa ho asɛm bɛyɛ afe 1845. Nanso, wɔtoo din "Vander Woude" de hyɛɛ Oduruyɛfo Anne Van der Woude a osuaa ho ade kɛse wɔ 1950 mfe no mfiase no anuonyam.

Dɛn ne Anofafa a Apaapae ne Anom a Apaapae?

Momma yɛnka eyi tẽẽ. Anofafa a apaapae ne anom a apaapae yɛ awo mu dɛmdi a ɛba bere a akokoaa nyin wɔ awotwaa mu no. Akokoaa betumi anya tebea horow yi mu biako anaa abien no nyinaa.

• Anofafa a Apaapae: Eyi ne bere a wo ba no anofafa a ɛwɔ soro no afã abien no nhyia yiye. Eyi betumi ama anofafa a ɛwɔ soro no mu kwan ketewaa bi anaasɛ mpaapaemu. Eyi nso betumi aka anom.
• Cleft Palate: Eyi ne bere a abofra bi wɔ n’ano atifi mu kwan anaa mpaapaemu, wɔ anom anim fã a ɛyɛ nnompe fã no, anaa anom akyi fã a ɛyɛ ntini a ɛyɛ mmerɛw no fã no, anaa afã abien no nyinaa.

Van der Woude Yare no abu so dɛn?

Eyi yɛ tebea a ɛntaa nsi koraa ankasa. Sɛ wohwɛ wiase nyinaa a, saa tebea yi ka nnipa bɛyɛ 35,000 kosi 100,000 biara mu biako pɛ. Enti wubetumi ahu sɛnea eyi ho yɛ na.

Dɛn nti na ɛte saa?

Afei ma yɛnhwɛ nea ɛde Vander Wood Syndrome ba. Ade titiriw nti a ɛte saa ne awosu mu nsakrae.

Akwankyerɛ nketenkete a ɛtoatoa so na ɛhwɛ biribiara a ɛwɔ yɛn nipadua mu so. Eyi ne nea yɛfrɛ no `genes`. Ɛte sɛ aduannoa ho nyansahyɛ. Enti, awosu mu abɔde titiriw bi a wɔfrɛ no `IRF6` (Interferon Regulatory Factor 6) ka Vander Wood yare no ho.Saa `IRF6` gene yi yɛ adwuma te sɛ `engineer` a ɔkyekye nneɛma te sɛ akokoaa ti, n'anim, ne honam ani, ne ne honam ani fã. Ɛyɛ nea ɔyɛ `protein` nneɛma a ehia na eyinom anyin yiye.

Afei susuw ho, dɛn na ɛba sɛ nsakrae ketewaa bi ba, anaasɛ yebetumi aka sɛ ‘mutation’, wɔ akwankyerɛ a saa ‘engineer’ yi de yɛ adwuma no mu, wɔ `IRF6` gene no mu a? Saa `protein' adeɛ no, wɔnyɛ no dodoɔ a wɔhwehwɛ. Ɛno ne bere a akokoaa no anim afã horow bi, titiriw n’ano ne n’anom nnyinyin yiye. So wote ase?

Mmofra a wɔwɔ saa tebea yi nya `IRF6` awosu mu abɔde a wɔasesa no fi ɔwofo biako pɛ hɔ, ɛna anaa agya no hɔ. Bere a nyansahufo kɔ so reyɛ eyi ho nhwehwɛmu no, ebetumi aba sɛ ebia wobehu awosu mu nkwaadɔm pii a ɛka ho daakye.

Hena na ɔwɔ asiane kɛse mu sɛ obenya eyi?

Vander Wood yare no yɛ ɔyare a ɛma nipadua no tumi yɛ adwuma . Sɛ yɛbɛka no tiawa a, eyi kyerɛ sɛ sɛ ɔwofo no mu biara wɔ awosu mu nsakrae a ɛde yare no ba a, abofra no betumi anya bi afi awo mu.

Eyi kyerɛ sɛ sɛ ɔwofo no mu biara wɔ awosu mu nkwaadɔm mu nsakrae no a, abofra biara a wɔwɔ no wɔ hokwan 50% sɛ obenya tebea no afi awo mu. Mpɛn pii no, ɔwofo a onya awosu mu abɔde no nso wɔ tebea no. Nanso, ɛntaa mma koraa sɛ abofra betumi anya awosu mu nkwaadɔm mu nsakrae no na wanda Vander Wood yare no ho sɛnkyerɛnne adi.

Dɛn ne tebea yi ho sɛnkyerɛnne?

Vander Wood Syndrome ho sɛnkyerɛnne atitiriw pii wɔ hɔ, na ɛsɛ sɛ yehu.

• Anofafa a apaapae, anom a apaapae, anaa n’abien nyinaa: Eyi ne ade a ɛda nsow na ɛda adi kɛse.
• Anofafa mu amena anaa nkoko: Ebia abon nketenkete anaa nkoko betumi apue wɔ anofafa a ɛwɔ fam no fã biako anaa abien no nyinaa. Ɛtɔ mmere bi a, eyinom mu biako anaa nea ɛboro saa betumi aba.
• Anofafa a ɛwɔ fam a ɛyɛ nwini: Esiane sɛ saa `anofafa amena` yi ne nnompe anaa nsu a ɛyɛ nwini no wɔ abusuabɔ nti, anofafa a ɛwɔ fam no betumi ayɛ te sɛ nea ɛyɛ nwini na ɛyɛ nsu bere nyinaa.
• Nse a ɛyera (hypodontia) anaa ɔhaw ahorow a ɛfa sẽ a ɛyɛ mmerɛw ho (dental hypoplasia): Ebia mmofra binom sẽ biako anaa nea ɛboro saa a ɛtra hɔ daa ayera. Ebia wobenya ɔhaw ahorow bi nso wɔ enamel, akyi kataso a ɛbɔ sẽ no ho ban no nyin ho.

Nsɛnnennen bɛn na ebetumi aba esiane tebea yi nti?

Mmofra bi a wɔwɔ Vander Wood syndrome nso betumi anya nsɛnnennen afoforo, nanso ɛnyɛ obiara na ɔwɔ eyinom.

• Nkɔso a ɛkyɛ: Mmofra binom betumi akyɛ kakra wɔ wɔn nkɔso nyinaa mu.
• Adwene mu yare a emu nyɛ den: Ebia adesua tumi a ɛyɛ mmerɛw kakra wɔ hɔ.
• Ɔkasa ne kasa a ɛkyɛ: Ɔhaw a ɛba ano ne anom no betumi ama ɔkasa ne kasa mu nkɔso akyɛ.

So wubetumi ahu eyi bere a akokoaa no wɔ awotwaa mu no?

Yiw, ɛtɔ mmere bi a ebetumi aba.

Ɛtɔ mmere bi a , ultrasound scan bere a akokoaa no da so ara wɔ awotwaa mu no tumi hu anofafa a apaapae, na ɛntaa mma sɛ anom apaapae. Sɔhwɛ titiriw bi nso wɔ hɔ a wɔde hwɛ sɛ ebia IRF6 awosu mu nkwaadɔm mu nsakrae no wɔ hɔ anaa. Wɔfrɛ eyinom nhwehwɛmu a wɔyɛ ansa na wɔawo.

• Chorionic villus sampling (CVS): Nea ɛka eyi ho ne sɛ wobegye ntini ketewaa bi afi awotwaa no mu na wɔasɔ ahwɛ.
• Awosu mu amniocentesis: Eyi hwehwɛ sɛ wɔfa awosu mu nsu a atwa akokoaa no ho ahyia no bi na wɔasɔ n’awosu mu nkwaadɔm ahwɛ.

Saa nhwehwɛmu ahorow yi betumi asi so dua sɛ ebia awosu mu nsakrae no wɔ hɔ anaa.

Ɔkwan bɛn so pɛpɛɛpɛ na wohu eyi bere a wɔawo akokoaa no akyi?

Sɛ wo ba no ano apaapae, n’anom apaapae, anaa n’ano mu amena wɔ n’awo akyi a, ɛda adi sɛ wo duruyɛfo bɛkamfo akyerɛ sɛ wɔnyɛ awosu mu nkwaadɔm mu nhwehwɛmu . Wɔtaa yɛ eyi denam mogya a wɔfa so. Saa sɔhwɛ yi bɛma woahu no yiye sɛ ebia wowɔ IRF6 awosu mu nkwaadɔm mu nsakrae a ɛde Vander Wood yare no ba no. Ɛtɔ da bi a, wobetumi aka akyerɛ wo ne wo hokafo sɛ monyɛ saa awosu mu nhwehwɛmu yi na ama woate w’abusua awosu mu abakɔsɛm ase.

Ɔkwan bɛn so na wɔbɛsa eyi?

Ayaresa titiriw a wɔde sa tebea yi ne oprehyɛn . Mma ɛnhaw wo, mprempren oprehyɛn yi akɔ anim yiye.

• Ehia sɛ wɔyɛ oprehyɛn de to anofafa a apaapae ne anom a apaapae ntam no mu, kyerɛ sɛ, wɔde besiesie.
• Wɔtaa yɛ anofafa a ɛpaapae oprehyɛn bere a akokoaa no adi fi asram 2 kosi 6 no.
• Wɔtaa yɛ oprehyɛn a wɔde siesie anom a apaapae no akyiri yi, kyerɛ sɛ, bere a akokoaa no adi fi asram 9 kosi 18 no .
• Sɛ wowɔ saa `anofafa amena` a yɛkaa ho asɛm no a, wɔyɛ oprehyɛn de yi na wogyae nnompe ne nsuo a ɛbɛsen akɔ anofafa no mu. Ɛtɔ da bi a wobetumi ayɛ saa oprehyɛn yi bere koro no ara mu ne oprehyɛn a wɔde siesie `anofafa a apaapae` anaa `anom a apaapae` no.

Ayaresa afoforo bɛn na ɛwɔ hɔ?

Oprehyɛn akyi no, ayaresa afoforo wɔ hɔ a ebetumi aboa abofra no.

• Aduan a wɔde ma ho nsɛnnennen: Ebia ɛbɛyɛ den ama nkokoaa a wɔn ano apaapae anaa wɔn anom apaapae sɛ wɔbɛnom nufu na wɔadi kosi sɛ wɔbɛyɛ wɔn oprehyɛn. Sɛ eyi ba a, ebia ebehia sɛ wokɔ aduan ho ɔbenfo anaa ɔkasa kasa ho ɔyaresafo nkyɛn kɔhwehwɛ afotu wɔ nkotoku titiriw a wɔde ma aduan ne akwan a wɔfa so ma aduan ho.
• Ɔkasa mu ayaresa: Ebia ɛbɛyɛ den ama mmofra binom sɛ wɔbɛkasa bere a wɔayɛ wɔn oprehyɛn awie no. Ɔkasa mu ayaresa betumi aboa kɛse wɔ nsɛm a ɛtete saa mu.
• Nsõ a wɔde sa yare:Sɛ́ ebia wo sẽ ayera anaasɛ wowɔ ɔhaw ahorow wɔ wo sẽ mu ntini ho no, ɛho hia sɛ wo ne sẽ ho oduruyɛfo titiriw kɔhwɛ wo sẽ daa na wohwɛ wo sẽ ne wo sẽ yiye. Ebia ɛho behia nso sɛ woyɛ sẽ a wɔde yɛ wo sẽ anaasɛ wosiesie wo sẽ de sesa wo sẽ a ayera.

So wobetumi asiw Van der Woude Syndrome ano?

Eyi yɛ awosu mu tebea, enti ɛyɛ den sɛ wobesiw ano koraa. Nanso, sɛ wunim sɛ wo anaa wo hokafo wɔ awosu mu nsakrae a ɛde ba no a, ɛbɛyɛ papa sɛ wubehu awosu ho ɔfotufo ansa na woawo.

Awosuo ho ɔfotufoɔ bɛtumi akyerɛkyerɛ asiane a ɛwɔ mu sɛ wɔde saa awosuo mu nsakraeɛ yi bɛma awoɔ ntoatoasoɔ a ɛbɛba daakye, ne akwan a wɔbɛfa so atew saa asiane no so (sɛ nhwɛsoɔ no, nneɛma te sɛ `PGD` - `Preimplantation Genetic Diagnosis`, a wɔde mfiridwuma te sɛ `IVF` na ɛyɛ).

Dɛn ne obi a ɔwɔ saa tebea yi daakye?

Ebia eyi bɛyɛ te sɛ nea ɛyɛ hu, nanso mpɛn pii no, wobetumi asa tebea yi yiye. Oprehyɛn a wɔyɛ de siesie anofafa a apaapae ne anofafa a apaapae no di yiye kɛse. Nneɛma pii wɔ hɔ a wubetumi ayɛ wɔ fie de aboa wo ba ma ne ho atɔ no ntɛm wɔ oprehyɛn akyi.

Mmofra dodow no ara yɛ yiye wɔ oprehyɛn akyi na wɔtra ase sɛnea ɛsɛ, na ɛyɛ pɛ te sɛ mmofra afoforo. Sɛ ɛyɛ den ma wɔn sɛ wɔbɛkasa a, kasa mu ayaresa betumi aboa. Enti ɛho hia sɛ yenya anidaso.

Bere bɛn na ɛsɛ sɛ wokɔ oduruyɛfo nkyɛn?

Sɛ wo ba no wɔ ɔhaw ahorow a edidi so yi mu biara a, kɔ oduruyɛfo nkyɛn ntɛm ara:

• Ɔhome a ɛyɛ den
• Adidi a ɛyɛ den
• Ɔkasa a ɛyɛ den
• Ɛyɛ den sɛ wobɛmene

Sɛ wowɔ saa nneɛma yi a, ɛho hia paa sɛ wohwehwɛ aduruyɛ mu afotu ntɛm ara.

Dɛn na ɛsɛ sɛ wubisa wo duruyɛfo?

Sɛ wokɔ oduruyɛfo nkyɛn a, wubetumi abisa nsɛm yi:

• Dɛn na ɛma me ba nya Vander Wood yare no?
• So ɛsɛ sɛ wɔyɛ me ba oprehyɛn? Sɛ saa a, bere bɛn na wɔbɛyɛ?
• Ayaresa foforo bɛn na ɛwɔ hɔ a ebetumi aboa me ba no?
• Dɛn na metumi ayɛ wɔ fie de aboa wɔ adidi ne kasa ho haw ahorow ho?
• So ɛsɛ sɛ me ne me kunu yɛ awosu mu nhwehwɛmu?
• So ɛsɛ sɛ mihu nsɛnnennen ho sɛnkyerɛnne ahorow?

Bisa saa nsɛm yi na ma biribiara a ɛwɔ w’adwene mu no mu da hɔ.

Nsonsonoe bɛn na ɛda Van der Woude Yare ne Popliteal Pterygium Yare no ntam?

Eyi nso yɛ nea ɛyɛ den kakra, nanso eye sɛ wubehu no tiawa.

Popliteal Pterygium Syndrome (PPS) nso yɛ tebea a ɛyɛ autosomal titiriw. Te sɛ Vander Wood Syndrome no, ɛnam nkwaadɔm mu nsakrae a ɛba awosu mu abɔde koro no ara mu, IRF6, mu na ɛba. Nanso, PPS abu so sen Vander Wood Syndrome.Rare (ɛka nnipa 300,000 biara mu biako pɛ wɔ wiase nnipa dodow mu).

Wɔ Vander Wood syndrome ho sɛnkyerɛnne te sɛ anofafa a ɛpaapae, anom a apaapae, ne anofafa mu amena akyi no , abofra a ɔwɔ `PPS` betumi anya sɛnkyerɛnne afoforo pii:

• Ebia ntini a ɛboro so bɛbata aniwa no atifi ne ase ntam, anaasɛ anom ntam.
• Ebia honam ani a wɔabobɔw wɔ nansoaa akɛse no so.
• Labia majora, mmeawa awotwaa no akyi fã no nnyin yiye.
• Mmarimaa mmadwoa nsian.
• Ebia honam ani nhama wɔ nkotodwe akyi anaa nsateaa anaa nansoaa ntam (a wɔsan frɛ no syndactyly).

Awiei koraa no, nea ɛsɛ sɛ wokae (Take-Home Message) .

Ɛyɛ ade a ɛfata sɛ wobɛte awerɛhow, dadwen, na mpo wo bo fuw bere a wuhu sɛ wo ba no anim yɛ soronko, te sɛ `anofafa amena`, `anofafa a ɛpaapae`, anaa `anom a ɛpaapae`. Sɛ́ ɔwofo no, mfomso biara nni ho sɛ wobɛte nka saa.

Nanso nea ɛho hia ne sɛ wobetumi asa tebea horow yi mu pii yiye. Oprehyɛn betumi asiesie nipadua mu nsakrae yi pii, aboa wo ba no ma wanyin yiye, ne afoforo adi agoru, asua ade, na wabɔ bra a ɛfata.

Sɛ ɛyɛ den ma wo ba no sɛ obedidi anaa ɔbɛkasa a, wubetumi ahwehwɛ mmoa titiriw. Sɛ nsensan ho haw bi wɔ hɔ a, ɛho hia sɛ wohwehwɛ nsensan ho afotu daa.

Sɛ wo ba wɔ Vander Wood syndrome a, ɛho hia sɛ wokɔ awosu mu ɔfotufo nkyɛn kɔka sɛnea awosu mu nsakrae a ɛde bae no betumi aka awo ntoatoaso a ɛbɛba daakye ne nea wubetumi apaw ho asɛm. Ɛnyɛ wo nko ara, na nnuruyɛfo, ayaresa ho animdefo, ne afotufo pii wɔ hɔ a wobetumi aboa wo wɔ akwantu yi mu.

` Van der Woude Syndrome, anofafa amena, anofafa a apaapae, anom a apaapae, IRF6 awosu mu nkwaadɔm, awosu mu nsakrae, awo mu dɛmdi, oprehyɛn, mmofra akwahosan, awosu mu afotu