I naute hian heng symptoms te hi a nei em? Pfeiffer Syndrome chungchang hi i zir dawn teh ang!

Nu leh pate’n nausen piang thar an en huna an hlimna chu sawifiah theih loh a ni lawm ni? Chutih rual chuan naute chungchang chipchiar takin an ngaihven hle bawk. A châng chuan naute lu pianzia hi a mak deuh emaw, a mit chu a lianin a lang emaw i ti mai thei. Hetiang thil i hmuh hian tlemin hlauhna leh rinhlelhna i neih hi thil pangngai a ni. Mahse a lan dan danglam zawng zawng hi natna khirh tak chhinchhiahna a ni lo. Amaherawhchu, tunlaia kan sawi tur Pfeiffer Syndrome an tih, natna hmuh tur awm lo tak hi kan hriat chian a pawimawh hle.

Pfeiffer Syndrome hi eng nge ni? A awlsam zawngin i hrethiam ang u.

A awlsam zawngin Pfeiffer Syndrome hi genetic condition a ni. Thil thleng chu naute thluak a lo thanglian kim hmain luruh chhunga ruh inzawmkhawmna hmun, sutures an tihte chu a hun hmain a khar a ni. Hei hi damdawi lam tawng chuan craniosynostosis an ti a. Ngaihtuah teh, kan thluak hian thanlenna tur hmun a nei a. Chuvangin, luruh chu a khar hma chuan thluak chu a chhungah a lo thang lian a, luruh chuan a rawn nawr ta a ni. Hei vang hian luruh pianzia chu a dik lo hle a ni.

Hetiang natna vei naute hriat theihna tur mizia lian tak tak engemaw zat a awm.

• Hmai lai tak chu a lo thang tha lo emaw, a inhnim pil angin a lang emaw.
• Mit chu a lianin a lang chhuak a . A châng chuan mit chu hla takah dah theih a ni.
• Luruh pianzia hi a danglam bik hle.
• Thil danglam bik dang chu kutpui leh ke ruh lian tak takte chu kut zungtang dang atanga pawn lam hawia ben a ni.

Heng symptoms pakhat emaw a aia tam emaw i hmuh chuan hlauthawng suh. Mahse damdawi lam thurawn lak a pawimawh hle.

Pfeiffer Syndrome chi hrang hrang a awm em?

Ni e, doctor-te chuan he natna hi chi thum an hmuchhuak a, a nasat dan azirin. Eng nge an nih i en ang u.

Type 1 a ni

Hei hi symptom tlemte nei chi, a nih loh leh a na lo deuh chi a ni. Hei hi ``classic Pfeiffer syndrome'' an ti bawk.Heng naute hian hmêl lama harsatna engemaw zat an nei thei bawk a, a hmaa kan sawi tawh ang khan ke ruh lianah pawh danglamna a awm thei bawk. Amaherawhchu, uluk taka enkawl a nih chuan heng naupangte hian nun pangngaiin an nung thei a, finna level pangngaiin an zir thei bawk. Chuvangin, hei hi a thlamuanna deuh a ni.

Type 2 a ni

Hei hi chi khatna aiin a pawi zawk. Hetiang chi hi taksa peng hrang hranga ruh thanna lama harsatna khirh tak tak a awm thin. A lan chhuah dan chu:

• Elbow leh knee joint te uluk taka ben leh extend theih loh.
• Neurological lama harsatna a awm.
• Thinlung lama harsatna nei te.

Hetiang chi ah hian lu vun hian "tri-lobed" emaw "cloverleaf" emaw ang chi a nei thin. Chumi awmzia chu a sir lehlamah leh lu hma lamah pawh a hring, a rawn lang chhuak tihna a ni. Hetiang chi hi enkawl vat a nih loh chuan nunna atana hlauhawm a ni thei.

Type 3 a ni

Hei hi a chi hnihna ang bawkin a pawi hle. Mahse, hetiang hunah hian lu vun "clove" ang chi hi i hmu dawn lo. Aiah:

• Luruh bul chu a tawi hle.
• Pian tirh lamah ha a awm thei (natal teeth).
• Mit chu an socket atanga rawn chhuak angin a lang (ocular proptosis).
• Visceral anomalies a awm thei bawk.

Type 3 prognosis pawh chutiang chuan a tha lo. Enkawl loh chuan thihna chance a sang hle.

Chuvangin i hmuh angin heng chi thum zinga pakhat zel nasat dan hi a inang lo hle. Chuvang chuan a hmaa hriatchhuah leh enkawl a pawimawh.

Pfeiffer Syndrome hi engtiang chiahin nge a awm?

Hei hi a takah chuan genetic condition hmuh tur awm lo tak a ni. Statistics atanga a lan dan chuan nau piang sang za zinga pakhat chauhvin he natna hi an nei a ni. Chu chu a tlem hle tihna a ni.

Pfeiffer Syndrome natna lan chhuah dan chu engte nge ni?

Kan sawi tawh ang khan a chhan ber chu nausen nausen stage-a a lu ruh inkar ruh inkar suture te chu a hun hmaa khar a nih vang a ni. Chumi hnuah chuan naute thluak chu a thang chho zel a. Hei hian luruh chhunga pressure a tipung a, taksa lam thil engemaw zat a siam a, chu chuan naute hmel a tichhe a ni. Chung zingah chuan:

• Lu chu a tlangpui aia lian zawkin a lang a, a hmai sang tak a nei fo bawk.
• Mit chhuak emaw mit inkar hlat zawng tihpun emaw.
• Hnar chu a hrual a, hmui ang mai a lo ni ta a ni.
• Due to the small size of the jaw , ha chu a inzawm khawm a, a inzawm khawm a.

Tin, taksa pianphung dang a awm bawk:

• Ke ruh lian leh ke ruh lian hi a zau a, kut zungtang dang aiin a dinhmun a danglam hle.
• Kut zungtangte chu glue emaw, webbed emaw pawh a ni thei.

Heng symptom zawng zawng hi naute tin tan a inang vek lo. A natna nasat dan azirin a danglam thei.

Engtin nge Pfeiffer Syndrome hian naute taksa a nghawng?

Nausen nausen lai hian a lu ruh hi a lo thang chak hle a, chuvang chuan harsatna hrang hrang a tawk thei a ni. Chung zinga ṭhenkhat chu:

• Hydrocephalus: Hei hi thluak velah tui ang chi tui a lo awm khawm a, chu chuan luruh chhunga pressure a tisang a ni.
• Ha lama harsatna: ha hrual leh hrual ang chi.
• Hriatna hloh.
• Joint hnathawh that loh vanga kal harsa.
• Mut theih lohna (sleep apnea) a awm.
• Hnar hmanga thawk harsa (Airway obstruction).
• Mit hmuhna lama harsatna a awm.

Heng harsatnate hi enkawl vat a ngai a, hun rei tak enkawl a ngai bawk.

Eng thilin nge Pfeiffer Syndrome hi a thlen?

Hetiang dinhmun thlentu ber chu gene pakhata inthlak danglamna, a nih loh leh mutation a ni.Hei hian gene sawi tur chu a thawk tha tawh lo. A tam zawkah chuan he inthlak danglamna hi `FGFR2 (fibroblast growth factor receptor)` tih gene-ah a thleng thin. Mahse, `FGFR1` an tih gene inthlak danglam vang pawh a ni thei. Thil pakhatah chuan `FGFR3` gene-ah pawh hetiang danglamna hi hmuhchhuah a ni bawk.

A awlsam zawngin, he genetic change hian cell te thanlenna tura puitu protein (fibroblast growth factors) leh an receptor te inbiakpawhna a tibuai a ni. Chuvang chuan embryonic stage-ah chuan naute thluak a lo thanglian kim hmain luruh ruh inkar suture te chu a khar thin. Tichuan thluak a lo than chhoh zel chuan luruh ruh khar te chuan an in nawr tawn a, an pianzia an thlak danglam a, taksa peng hrang hrangah a pangngai lo takin a lo thang lian ta a ni.

He genetic mutation hi nu leh pa zinga pakhat (autosomal dominant) atanga rochun theih a ni. A nih loh leh, naute DNA-a inthlak danglamna thar, random tak (de novo mutation) a ni thei bawk. Naute pian lai hian pa chu kum 40-45 aia upa a nih chuan heng random changes te hi a tam zawk deuh tih hmuhchhuah a ni.

He dinhmun hian tute nge a nghawng?

Pfeiffer Syndrome hi a tlem hle a, mahse tu chungah pawh a thleng thei. Tu pawhin tumruh taka thlen theih thil a ni lo va, ven theih thil a ni hek lo. Hei hi kan hriat chian a pawimawh hle a ni.

Engtin nge Pfeiffer Syndrome hi hmuhchhuah a nih?

Hetiang dinhmun hi naute pian hma pawhin hriat theih a ni. Nausen nausen lai hian nausen ruhro (skeletal system)-a thil dik lo awmte chu nausen piang hmaa ultrasound scan emaw magnetic resonance imaging (MRI) test hmanga hriat theih hun a awm.

Mahse, naute pian hnuah a diagnosis hi finfiah a ni fo. Doctor chuan naute taksa enfiahna a nei thei a, computed tomography scan (CT scan) emaw MRI emaw hmangin a lu ruh leh ruh dangte a danglamna a zawng thei bawk. FGFR1 leh FGFR2 genes inthlak danglamna zawngtu genetic testing pawh hian a natna hmuhchhuah hi a nemnghet thei bawk.

Pfeiffer Syndrome hi eng enkawlna nge ni?

Hetiang dinhmun enkawlna hi a lan chhuah dan a zirin a ni. I fa doctor chuan ruh than dan dik lo siamthat nan operation engemaw zat neih a rawt thei ang.

Enkawlna nghal chu naute thluak a lo thanglian zel angin luruh (craniosynostosis) a pressure tihziaawmna tur operation tih a ni . A nih loh leh, luruh chhungah tui a lo awm khawm (hydrocephalus) chuan luruh chhungah tube te tak te (shunt) dahin tui chu a chhuah tir thin. He surgery hi naute thla 4 a tlin hmaa tih thin a ni tlangpui.

Naute kum khatna chhungin doctor-te chuan thluak a lo thanglian theih nan a lu ruh hawn nan operation neih an rawt thei bawk.

Chumi hnuah chuan .Reconstructive leh cosmetic surgery te hi hmai asymmetry siamthat nan te, thawkna kawng hawn nan te, luruh pianzia siam that nan te an ti thin.

A pawimawh ber chu, naupang doctor enkawlna hnuaiah Pfeiffer Syndrome vei naupang tam zawk chu an theihna zawng zawng tihlawhtling turin tanpui theih a ni.

Pfeiffer Syndrome natna tihziaawmna tur damdawi awmte chu engte nge ni?

Surgery bakah hian he natna avanga harsatna awm thei tihziaawmna tur enkawlna a awm bawk.

• Ha enkawlna leh ha inzawmkhawm leh hmui sang tak (high-arched palate) ang chi thilte tan ha enkawlna leh orthodontics te.
• Mit lama harsatna nei tan mit enkawlna.
• Hriatna lama harsatna nei tan hearing aid hman.

Heng zawng zawng hi naupang chu a theih ang anga nun pangngaia a awm theih nan tih a ni.

Hei hi damdawi famkim a awm em?

Vanduaithlak takin tunah hian Pfeiffer Syndrome hi damdawi a la awm lo. Surgery leh enkawlna dangte hian naupang natna lan chhuah dan tihziaawmna tur leh a thanlenna tur dik taka puih a tum a ni.

Pfeiffer Syndrome vei naupang nu leh pa i nih angin eng nge i beisei ang?

Pfeiffer Syndrome hi dam chhung zawnga natna a ni a, damdawi a awm lo. I fa doctor chuan a natna lan chhuah dan tur enkawlna tur ruahmanna a siam ang. Hei hian surgery engemaw zat a huam thei bawk.

• I fa hian Type 1 Pfeiffer syndrome a neih chuan an dam rei zawng chu a pangngai a nih a rinawm.
• Mahse, Type 2 emaw Type 3 Pfeiffer syndrome nei naupangte chu enkawl loh chuan harsatna an tawk tam zawk a, an dam rei zawk thei bawk .

Chuvangin, i fate chu an lo thanglian zel a, an hriselna emaw, an hmasawnna lama harsatna an neih theih dan tur hriat chian nan wellness checkup neihpui fo a pawimawh hle.

Pfeiffer Syndrome vei fa neih theihna hi ka tihtlem thei ang em?

Fa i beisei a nih chuan i doctor nen genetic counseling leh genetic testing chungchang sawipui rawh. Nangmah emaw i kawppui emaw hian FGFR1 emaw FGFR2 gene mutation i neih chuan i fain a rochun theihna chance 50% a awm a ni. Chumi awmzia chu fa i neih chuan an neih leh neih loh theihna chance 50-50 a awm tihna a ni.

Mahse, nu leh pa pahnihin he natna hi an neih loh chuan fa pahnihnain he natna hi a vei theihna chance a tlem hle. Mahse, zero vek a ni thei lo, a chhan chu a hmaa kan sawi tawh ang khan random genetic changes (de novo mutations) a awm thei a ni.

Engtikah nge ka fa doctor ka hmuh ang?

I fain Pfeiffer Syndrome a neih chuan a hnuaia mite hi hre reng ang che:

• Naupangin thawk harsa a tih chuan.
• Surgery hmun chu a dam tha lo a, a rawng a danglam a, a hring a, a hring (pus) a awm a nih chuan (hei hian infection a kawk thei).
• Naupangin an kum nena inmil developmental milestone a tlin loh chuan.
• Thupek awlsam tak, thusawi hmanga pek an dawn loh chuan emaw, beng natna an neih fo chuan emaw.

Hetiang thil i hmuh chuan Doctor pan nghal rawh.

Doctor hnenah eng zawhna nge ka zawh ang?

Hetiang zawhna hi zawh a tha:

• Ka fa tan hian eng enkawl dan nge inhmeh ber?
• He natna enkawlna atana surgery neih hian eng hlauhawmna nge a neih?
• Fa dang ka neih chuan ani pawhin he natna hi a vei theihna tur a awm em?

Heng zawhnate bakah hian doctor hnenah i rilrua i neih apiang zawt thin ang che.

Prince-a fa pawh hian Pfeiffer Syndrome a vei em?

Ni e, hei hi thil thleng hriat lar tak a ni. Kum 2017-a a lehkhabu, The Most Beautiful: My Life with Prince-ah khan musician lar Prince-a nupui Mayte Garcia chuan kum 1996-a an fa neih chu Pfeiffer syndrome type 2 a vei dan a sawi a, vanduaithlak takin naute hi he natna avanga harsatna nasa tak a neih avangin nausen laiin a thi a ni. Garcia chuan amah emaw Prince emaw pawhin he genetic condition hi an nei lo tih a sawi a, naupang hian genetic mutation thar a neih vang nia rin a nih thu a sawi bawk. Hei hian natna chu a nasat zia leh a chang chuan sawi lawk theih loh a nih theihzia a tilang chiang hle.

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

Pfeiffer Syndrome hi genetic condition hmuh tur awm lo leh buaithlak tak a ni. Symptoms tihziaawm nan operation vawi tam tak neih a ngai thei bawk. Amaherawhchu, inenkawlna mumal leh damdawi lam enkawlna tha tak a awm chuan i fa chu naupang dang ang bawkin a thang lian thei a, a zir thei bawk. Mahse, harsatna engemaw zat i hriat tur a awm.

I chhungkuaa mi pakhatin Pfeiffer Syndrome a vei a, fa i beisei a nih chuan genetic counseling lak a pawimawh hle. Hei hian i fa chu he natna vei theihna hlauhawm a nih leh nih loh hriat theih nan a pui ang che.

He thu hi in tan a tangkai ngei ka beisei. Nangmah chauh i ni lo tih hre reng ang che. Hetiang dinhmun kan hmachhawn hian doctor leh chhungte hnen atanga tanpuina lak a pawimawh hle.

` Pfeiffer syndrome, Pfeiffer syndrome, genetic natna, luruh, craniosynostosis, naupang hriselna, FGFR gene, surgery