I naute lu hi a pianzia a danglam em? Pfeiffer Syndrome chungchang hi han sawi ila

Nu emaw, pa emawin nausen piang thar an hmuh huna an hlimna chu thuin a sawifiah thei lo. Mahse a chang chuan, naute lu pianzia hi tlem a mak deuh tih i hmuh chuan hlauhna leh lungkhamna nasa tak i neih hi thil pangngai a ni. Vawiin hian chutiang hlauhna rilrua rawn thlentu, mahse i hriatthiam dan dik chuan enkawl theih tur dinhmun tlemte kan sawi dawn a ni. Hei hi Pfeiffer Syndrome an ti a. He hming i hriat hian hlauthawng suh. A awlsam zawngin, step khat hnu step khatin sawi ila.

Pfeiffer Syndrome hi eng nge ni?

A awlsam zawngin sawi ila, Pfeiffer syndrome hi naute pian tirh atanga lo awm, naute luruh leh hmai ruh te hmasawnna tichhe thei thil awm lo tak a ni.

Hei hi hrethiam tur chuan kan luruh siam dan hi han thlir hmasa ila. Nausen a lo pian hian an lu chung lam chu ruh pakhat chauh a siam a ni lo. Ruh chi hrang hrang, a nih loh leh plate engemaw zat inzawmkhawm a ni. Heng ruh plate inkarah hian special joint (sutures) a awm a. Chûngte chu thluak a lo ṭhan chhoh zêl chuan luruh chu a lo ṭhanlen theih nân, a nih loh leh a zau zêl theih nân a awm a ni. A tlangpuiin heng ruh plate te hi an inzawm khawm a, lu chu a lo thanglian kim tawh chuan an solid ta a ni.

Mahse, naute Pfeiffer syndrome neiah chuan luruh chhunga ruh plate te chu an fuse rang hle a, chu chu thluak a lo thanglian kim hmain a ni. Bêl te tak têa thing ang maiin ngaihtuah la, a lo ṭhan chhoh zêl chuan a zung chu bêl chhûngah a inkhung ṭhîn. Thluak hian thanlenna tur hmun a neih tlem avangin luruh leh hmai pianzia chu a danglamin a danglam thin.

Pfeiffer syndrome hi eng chi hrang hrang nge ni?

Pfeiffer syndrome hi chi thum ah then a ni a. Heng chi zawng zawng hian naute hmel a nghawng vek laiin, chi 2 leh 3 hi a na ber a ni. Anni hian rilru lama hmasawnna a tikhawtlai thei a, zirlai harsatna a thlen thei a, thluak, chetna leh nervous system-a harsatna lian tham dang a thlen thei bawk.

Eng thilin nge Pfeiffer syndrome hi a thlen?

Hetiang dinhmun hi kan taksaa cell te than leh thihna control tu gene a mutation vang a ni.

A châng chuan hei hi nu leh pate aṭanga naupang hnêna rochun theih a ni. Mahse a tam zawkah chuan nu leh pate hian he syndrome hi an nei lo. Chumi awmzia chu he dinhmun hi naute genes lo pian chhuahnaah randomly (out of the blue) a inthlak danglamna thar avanga lo awm a ni tihna a ni. Chuvangin, nu leh pa i nih angin, he thil hi inthiam lohna nei suh.

He genetic mutation hian naupai laiin protein thenkhat siam dan leh hnathawh dan a tidanglam thin. Chuvang chuan, chu protein-te chuan naute luruh ruhte chu "fuse rang lutuk" turin signal dik lo an thawn a ni. Hei hian thluak chungah pressure a siam a, luruh chu a pianzia a thlak danglam thin. A chang chuan kut zungtang leh ke ruh ruh te pawh hi a fuse rang lutuk thei bawk.

A lan chhuah dan berte chu engte nge ni?

Nausen hrang hrangah leh syndrome chi hrang hrangah hian symptoms a inang lo. Heng symptoms te hi lu leh hmai, kut zungtang, ruh leh taksa peng dangah te hmuh tur a awm ber.

Lu leh hmai

• Hnar zau tak, flat tak, a tip hnuai lam hawia inher
• Mit inhlat tak leh chhuak chhuak
• Hma lam atanga hnunglam thlenga lu tawi
• A hmai a sang hle
• A hmai lai takah chuan a sunken appearance
• Upper jaw te tak te tak leh chuvang chuan ha crowded leh crowded tak tak a awm

Kut zungtang leh ke ruhte

• Kut zungtang tawi te te
• Ke ruh lian (kut leh ke) chu a tlangpui aia zau zawk leh ke ruh dang atanga hla taka ben
• Webbed fingers/toes pawh a ni mai thei

Harsatna dang

• Hriatna hloh: Naupang 50% aia tam chuan hriatna hloh an nei.
• Ha lama harsatna: Ha alignment leh jaw lama harsatna.
• Ei leh in lama harsatna: A bik takin naupan lai hian.
• Thâwk lama harsatna: Sleep apnea ang chi, mut laiin thawk a chawlhsan ṭhin.
• Mit lama harsatna: Mit lo chhuak hian a vawt a, mitmeng a khar kim thei lo.
• Hmasawnna leh zirlai tihkhawtlai (a bik takin type 2 leh 3-ah te).

Engtin nge he natna hi kan hriat theih ang?

I doctor chuan naupai laiin ultrasound emaw MRI scan hmangin he natna hi a hre thei a ni. Naute a pian hnuah doctor chuan taksa enfiahnaah naute lu vun leh ke ruh lian tak takte enin a natna a awm leh awm loh a hre thei tlangpui.

Hei hi Pfeiffer syndrome emaw, natna dang emaw a nih leh nih loh finfiah nan i doctor chuan test dang engemaw zat tih a rawt thei bawk.

• X-ray emaw CT scan: Luruh ruhte chu engtin nge a inrem tih chiang takin en rawh.
• Genetic test: Thisen emaw, hmui emaw sample lak a, hei hi a thlentu gene mutation a awm leh awm loh finfiah tur a ni.

Enkawlnate chu engte nge ni?

Naute enkawlna dawn chu syndrome chi leh symptom an neih danah a innghat a ni. Hei hian specialist team lian tak, doctor, surgeon, speech therapist, leh physical therapist te puihna a mamawh a ni . Surgery hian enkawlna kawngah hmun pawimawh tak a chang a ni.

Luruh zai a ni

Naupang tam tak chu thla 18 an tlin hmain an lu ruh pianzia siamthat nan operation an nei thin. Hei hian thil tum lian tak pahnih a nei a:

1. Thluak chunga pressure tihziaawm.

2. Thluak chu zalen taka a thanlen theihna tura a mamawh hmun pek.

He surgery zawh hian luruh chu a pianzia dik takah a dam theih nan helmet bik bun a ni ang.Inbel tura pek a ni. I dam chhungin chutiang surgery vawi hnih atanga pali i neih a ngai mai thei.

Midface surgery neih a ni

Naupang thenkhat chu jaw problem siamthat nan operation an mamawh a, an hmai lai takah ruh te chu hmalam pan turin an hruai thin. Hei hi naupang kum 6 tal a tlin hnuah tih a ni tlangpui.

Thâwk lama harsatna nei enkawlna

Naupang thenkhat chuan thawkna kawng inkharkhip vangin thawk harsa an ti thin. Chumi atan chuan, .

• I mut laiin mask bik CPAP (Continuous Positive Airway Pressure) tih vuah turin an ti ang che.
• Tonsils emaw adenoids emaw chu surgery hmangin lakchhuah a ni.
• A nasat ber lai chuan tracheostomy an tih surgical procedure an ti a, chu chu kawr chhungah khur te tak te siamin, thlipui chhungah direct-a tube dahin thawk chhuah theih a ni.

Enkawlna dang

Hei bakah hian naute mamawh dan azirin, .

• Ha lam harsatna nei tan ha enkawlna
• Kut zungtang lama harsatna nei tan surgery neih a ni
• Hearing aid emaw, hriatna lama harsatna nei tan surgery emaw
• Mit lama harsatna nei enkawlna
• Thusawi leh tawng thiamna tihhmasawn nan Speech therapy
• Mobility tihchangtlun nan physical therapy ang chi thil a ngai a ni.

Engtin nge dam rei zawng hi a awm?

Hei hi thupui sensitive tak a ni.

• Naupang Type 1 Pfeiffer syndrome nei te hi an enkawl tha thei hle. Dam chhung pangngai an nei a ni. An zir tha thei a, an khel tha thei a, puitling mahni inrintawkna neiin an khawsa thei bawk.
• Type 2 leh 3 te hi a buaithlak zawk. Hêng naupangte hian chetna, thawk leh rilru lama harsatna an tawk tam zâwk a ni. Thluak leh thluak lama harsatna a awm chuan an dam chhung a ti tawi thei a ni. Mahse, enkawl leh puihna kalpui zel chuan an nunphung a tichangtlung thei a ni.