Nager Syndrome: I fate hian he natna hmuh tur awm lo tak hi a hriat tur em ni?

A chang chuan nausen piang thar i en hian an hmai leh kut ah inthlak danglamna te te i hmu thin. Nang, nu leh pa angin hetiang thil i hmuh hian i lungkham hle tih hi thil pangngai tak a ni. Vawiin hian chutiang thil awm lo, mahse hriat tur pawimawh tak, genetic condition pakhat kan sawi dawn a ni. Chu chu Nager syndrome a ni .

Nager syndrome hi eng nge ni tak tak?

A awlsam zawngin, Nager syndrome hi genetic condition hmuh tur awm lo tak a ni . Acrofacial dysostosis type 1, Nager type an ti bawk. Hetiang natna vei naute hi a piang a, a hmai, a kut leh a kut hmawr ruh thenkhat chu a lo thang tha lo hle. Naute pum chhunga a awm laiin heng ruhte hi a lo thang tha lo ang maiin ngaihtuah rawh.

Hetianga ruh than lohna avang hian naute hian side effect engemaw zat a nei thei a ni. Entirnan, beng hmun thenkhat chu a insiam that loh avangin hriatna hloh a awm thei . Chuvangin, tawng zir ang chi thilte chu a tlai thei hle. Mahse, a pawimawh ber chu Nager syndrome hian naupang hriatna lama hmasawnna a nghawng lo tlangpui . Chu chu naupang thluak lamah harsatna a awm lo tihna a ni. Hei hi nu leh pate tan chuan thlamuanna nasa tak a ni tak zet a ni.

Nager syndrome hian tute nge a nghawng nasa ber?

Because this is a genetic condition , tu pawh hi he natna hian a nghawng thei a, naute DNA- a gene bik pakhat chu nausen pum chhunga an lo thanglian laiin a inthlak danglam a nih chuan. Chumi awmzia chu tuin nge tipung ang tih chiang taka sawi a harsa tihna a ni.

Naupangin hetiang dinhmun a thlen theihna tur kawng lian pahnih a awm a, chungte chu:

1. Nu leh pa atanga rochun: A chang chuan, naupang hian he mutated gene hi a nu emaw a pa emaw atangin a rochun thei a ni.

2. New genetic mutation: Hei hi thil thleng tam ber a ni. Chu chu, nu leh pa pahnih hian he genetic problem hi nei lo mahse, naute hian he genetic mutation hi a nei a ni. Hei hi random occurrence a ni.

Hei hian genetics a nghawng dan hi tlem tal i sawifiah thei ang em?

Naupangin he dinhmun hi an nu leh pate a\angin a rochun ang tih han ngaihtuah teh.

• A châng chuan nu leh pa pakhat chauhvin mutated gene (autosomal dominant) nei mah se, naupangin a rochun thei a ni. Chumi awmzia chu nu emaw pa emaw hian gene hi a nei a, chu chu naupang hnenah a thlen chuan naupang pawhin he natna hi a nei ve mai thei tihna a ni.
• Thil dang dangah chuan nu leh pa pahnih hi mutated gene (autosomal recessive) kengtu an ni thei bawk . Carrier tih awmzia chu symptoms an nei lo a, mahse an DNA-ah a nghawng gene chu an nei tihna a ni. Chuvangin, nu leh pa pahnih hi carrier an nih a, naupangin an pahnih atanga mutated gene a rochun chuan naupang chuan Nager syndrome a nei thei a ni.

Tunah chuan chhungkaw khata naupang engemaw zatin Nager syndrome an nei a, mahse nu emaw, pa emaw pawhin an nei lo tih han ngaihtuah teh. Chutiang a nih chuan nu leh pa pahnih hi carrier an nih a rinawm a, ka sawi tawh ang khan, chu gene chu autosomal recessive pattern-in naupangte hnenah a kal chhuak a ni.

He natna hi Nager syndrome an tih hi engtiang chiahin nge a awm?

Dik tak chuan Nager syndrome hi a awm lo hle a, a awm lo hle . Engtiang chiahin nge a tlangpui tih hi statistics dik tak a awm lo. Chumi awmzia chu khawvela mi engzat nge nei tih chiang taka sawi a harsa tihna a ni. Mahse, medical literature-ah chuan case 100 chuang report a awm a ni . Chuvangin a tlem zia chu i ngaihtuah thei ang. Chuvangin, i hriat loh leh i hmuh loh pawh hi thil mak a ni lo.

Nager syndrome vei naute hian eng symptoms hmuh theih nge a neih?

Hetiang dinhmun hian i naute hmai, kut leh kut chunglam lo thanglian dan a nghawng ber a ni. A lan chhuah dan tlangpui thenkhat han thlir ila:

Hmai, kut leh kut leh kea thil langsar tak takte:

• Cleft palate: Hei hi naute hmui chhunga upper palate a khar dik loh vang a ni.
• Clinodactyly emaw syndactyly emaw: Kut zungtang chu a beng deuh niin a lang thei a, kut zungtang thenkhat chu a inzawm khawm angin a lang thei bawk.
• Down-slanting palpebral fissures: Mit pawn lam kil chu hnuai lam hawiin a hniam deuh niin a lang thei.
• Small lower jaw (micrognathia): A hnuai lam chu a tlangpui aia te zawk a ni thei. Hei hian a chang chuan naute hmel a tidanglam deuh thei a ni.
• Kutpui bo emaw, deformed emaw: Kutpui chu a awm lo thei a, a pianzia pawh a danglam thei bawk.
• Kut hmawr tawi leh kut chu elbow-a herh harsat: Forearm (elbow atanga wrist thlengin) a tawi thei. Kut chhunga radius bone pawh a awm lo thei bawk. Elbow-a range of motion pawh a tlahniam thei bawk.
• Beng te tak te: Beng zungte hi a tlangpui aia te zawk a ni thei.
• Underdeveloped cheekbones (malar hypoplasia): A hmui ruh hi a lo thang kim lo a, chu chuan hmui chu a pil deuh niin a lang thei.

Pawimawh: Naute zawng zawng hian heng symptoms hi a inang vek lo. Nausen thenkhat chuan heng zinga tlemte chauh an nei thei a, thenkhat erawh chuan tam tak an nei thei thung.

A tlem hle nachungin, piansualna thenkhat chu naute thinlung, kal, serh leh zun kawngah te a awm thei a ni.

Hei vang hian side effects a awm thei:

Naute ruh thenkhat chu genetic mutation vangin a thang tha lo a, Nager syndrome hian a symptoms te nen side effect dang engemaw zat a thlen thei bawk. Chungte chu:

• Hriatna hloh: A hmaa ka sawi tawh ang khan beng chhunga hmasawnna lama harsatna awm vangin hriatna hloh a awm thei.
• Airway obstruction: Naute hian thawk a harsat thei a, a bik takin a hnuai lam a hmui te tak te avang hian.
• Chaw pek harsatna: Cleft palate ang chi dinhmun hian naute tan chaw hnute pek leh ei tur a ti harsa thei a ni.
• Thusawi tihhmasawn tlai: Hriatna lama harsatna leh hmui insiam dan inthlak danglam avang hian tawng zir hi a tlai deuh thei a ni.

Eng thilin nge Nager syndrome hi a thlen?

Hei hi a chhan ber chu genetic mutation a ni . Scientist te chuan Nager syndrome vei zinga 50% vel chuan SF3B4 an tih gene a mutation vangin he natna hi an nei tih an hmuchhuak a. He gene hi kan taksaa cell te lo thanglian leh inthen darhna nena inzawm hna pawimawh engemaw zatah a thawk a ni.

Nager syndrome vei zinga 50% dang chu autosomal recessive pattern-a rochun an ni. Chumi awmzia chu ka sawi tawh ang khan nu leh pa pahnih hi carrier an ni a, naupang chuan chu mutated genes pahnih chu a rochun tihna a ni. Mahse, he (autosomal recessive) form chungchang hi a nih chuan, a tam zawkah chuan a thlentu gene bik hi hriat chian a la ni lo . Chumi awmzia chu, doctor-te chuan genetic a ni tih an hria a, mahse a mawhphurtu gene chu zirchian mek a la ni.

Nager syndrome hi engtin nge an hriat theih?

Naute a pian hnuah doctor-te chuan naute taksa enfiahna kimchang an nei ang. Hei hi an natna nena inzawm taksa chhinchhiahna eng pawh an zawn hmasak ber hun a ni. Entîr nân, naute hmai pianzia te, kut chunga kut zungtang awm dân te, beng pianzia te ngun takin an en ang.

Chu bâkah, naute hmai, kut leh kut chunglam ruhte chu engtin nge a lo ṭhan chhoh tih hriat nân X-ray pawh tih theih a ni bawk. Hei hian ruh thanna tlakchhamna a awm leh awm loh chiang takin a tilang thei a ni.

He natna hi chiang taka hriat theih nan genetic testing tih theih a ni. Hei hian naute kekawr atanga thisen sample tlemte lak a, lab-a enfiah a huam a ni. Chutah chuan, technician pakhat chuan naute DNA , chromosome, a nih loh leh protein-a inthlâk danglamna eng emaw zat a enfiah ṭhin. Heng inthlak danglamna te hi he natna hi genetic a nihzia tilangtu a ni.

Nager syndrome hi eng enkawlna nge ni?

Nager syndrome enkawl dan hi a natna nasat dan azirin a inang lo.. Chu chu naute zawng zawng hian enkawlna chi khat an mamawh vek lo tihna a ni. Mahse, he natna vei naute hian a nau neih hnua a nghawng \henkhat thunun nan operation vawi khat emaw, a aia tam emaw a mamawh thei a ni. Heng surgery te beiseina chu naute tan nunna atana thil pawimawh, thawk leh ei leh in te tih awlsam zawk nan a ni.

Surgery chi hrang hrang tih tam berte chu:

• Tracheostomy: Hei hian naute kawr hmalam, thlipui (trachea) chhungah khur te tak te siam a, chuta tang chuan tube dah a ni. Hei hian naute thawk a ti awlsam a , a bik takin a hnuai lam a hmui te tak te avanga thawkna kawng a tihkhawtlai chuan.
• Gastrostomy: Hetiang tih danah hian naute pum vun atang hian khur te tak te siamin feeding tube dah a ni. Hei hian naute chu a dam khawchhuahna atana a mamawh nutrients a dawng thei a , a bik takin a cleft palate chuan in emaw ei emaw a tiharsa a nih chuan.
• Tympanostomy: Hetiang tih danah hian naute beng bulah tube te te dah a ni. Hei hian beng natna a veng thei a , hriatna pawh a ti tha thei bawk . A natna a nasat dan azirin hearing aid pawh a ngai thei bawk.
• Craniofacial surgery: Hei hian hmai leh luruh surgery tihna a ni. Naute hmai inthlak danglamna thenkhat, hmui hrual, hmui lo thang lo, leh mit hrual (slanted eyes) te chu a siam tha thei a ni.

Symptoms enkawl dan tur enkawlna dang

He natna hi a hmaa hriatchhuah leh enkawl hian i fa tan thil tha zawk a thlen thei a ni. Surgery bakah hian i fain a theihna zawng zawng a thlen theihna tura pui thei tur enkawlna leh service dang engemaw zat a awm bawk.

• Physical therapy: Hei hian naupang chu a kal tha zawk a, a kut a hmang tangkai a, nitin hna a thawk thei bawk . Hei hi kut leh kea chetna (range of motion) tihpun nan a pawimawh hle a, taksa ruh tichak turin a pawimawh hle bawk.
• Speech therapy: Naupangin hriatna lama harsatna a neih theih avangin hei hian engtikah nge tawng an zir tih leh engtin nge an zir tih a nghawng thei a ni. Speech therapy hian heng thusawi tihkhawtlai te hi a siam tha thei a ni .
• Psychosocial therapy: Hei hi naupang tan chauh ni lovin, chhungkaw pum tan pawh a awm . Mi zawng zawngte chu he natna nena nunpui avanga lungkhamna leh lungkhamna lo awmte hmachhawn thei tura pui turin kaihhruaina leh tanpuina a pe a, rilru hriselna tha tak nei turin a pui bawk
• Genetic counseling pek dan tur: 1.1.Genetic counselor te hi specialist an ni a, genetic condition nei fa i neih theih dan tur an zirchiang thei a, naupai hma leh naupai laiin tanpuina an pe thei che a, i nau pian hnua i naute enkawlna leh hriselna kawnga kaihruai thei che an ni. Zawhna emaw, ngaihtuahna emaw i neih apiang chu i sawipui thei a ni.

Naupangin Nager syndrome a vei theihna tur tihtlem dan tur a awm em?

Dik tak chuan, Nager syndrome hi random genetic mutation -a lo awm a nih fo avangin, a ven theih dan tur chiang tak a awm lo. Chu chu, ‘Hetianga kan tih chuan he natna hi a lo awm tur hi kan titawp thei a ni’ tih hi a harsa tihna a ni.

Mahse, nu leh pa zinga pakhatin Nager syndrome nei ta ila. Chutiang a nih chuan naupang hnena pek chhuah theihna tur tihtlem dan tur a awm thei. Mahse chu chuan geneticist leh healthcare provider dangte endik a ngai ngei ang.

Fa i beisei a nih chuan, chu chu naupai tum i nih chuan , i doctor hmu a, genetic testing neih a pawimawh hle. Hei hian genetic condition nei fa i neih theihna tur risk tehna atan a pui thei a ni.

Nager syndrome vei naupang i neih chuan hmalam hun eng nge i ngaihtuah ang?

Nager syndrome hi dam chhung zawnga natna a ni , a damdawi chiang tak a awm lo . Mahse, lungngai suh. Enkawlna leh enkawl dan mumal tak a awm chuan naupang chu nun tha takin a nung thei a ni.

I naute a pian hnuah, medical team chuan i naute nghawng ṭha lo enkawl nân operation an ruahman mai thei a, a bîk takin thawk leh ei leh in awlsam zâwk nân . I naute a lo seilian chhoh zel chuan i naute chu a hmasawnna tur thil pawimawh tak a tlin em tih hriat chian nan leh tihkhawtlai a awm chuan a chinfel theih nan doctor hnenah i hruai fo a ngai dawn a ni .

Hriat reng tur: I fate chu nun hrisel leh hlim taka an neih theih nan a hmaa inrawlh hi a pawimawh ber a ni.

Naupang finna hi a nghawng lo tlangpui a, damdawi lam enkawlna tha, zirna lama tanpuina, leh chhungkaw hmangaihna an dawn chuan heng naupangte hian naupang dang ang bawkin an zir thei a, khawtlang nunah pawh an khawsa tha thei a ni.

Ka fate zinga pakhatin Nager syndrome a neih chuan ka fa dangte pawhin an vei thei ang em?

Ni e, naupang pakhat aia tam tan Nager syndrome , a bik takin a gene chu nu leh pa pakhat atanga naupang hnena pek chhuah a nih chuan. Chumi awmzia chu chhungkaw genetic history a zirin risk hi a danglam thei tihna a ni.

Nakin lawka i fate’n genetic condition an rochun theihna tur dik taka tehna atan chuan i...I doctor nen genetic testing chungchang sawipui rawh . Hei hi genetic counselor chuan chipchiar zawkin a hrilhfiah thei che a ni.

Engtikah nge Doctor ka hmuh ang? Eng thil nge ka ngaihtuah tur?

Enkawlna dik leh a nghawng ṭha lo enkawl tûra hma la hmasa chuan i fa chu a kum rualpui naupang dangte ang bawkin a lo seilian thei a, dam rei zawng pangngaiin a nung thei bawk I fa chu a taksa thanlenna leh a thanlenna milestone enfiah nan checkup neihpui fo a pawimawh hle a, a bik takin kum khatnaah

A hnuaia mite hi i hriat chuan doctor pan nghal rawh:

• I fa hian hmasawnna tur thil pawimawh tak tak a hloh a nih chuan . Entirnan, kum tling taka an roll over loh chuan, an thut loh chuan, an inbia lo a nih chuan.
• Surgery neihna hmuna vun a dam loh emaw, a hring emaw, a rawng a danglam emaw, a sen emaw, tui thianghlim emaw a chhuak ang maia lang (infection) .
• I fain thupek awlsam tak a chhan loh emaw, hriat harsa a tih ang emaw a nih chuan .

Pawimawh tak: I fain thawk harsatna a neih chuan 911 call nghal la, damdawi in emergency department hnai ber pan rawh. Hei hi emergency a ni.

Nager syndrome leh Miller syndrome hi eng nge an danglamna?

Miller syndrome, postaxial acrofacial dysostosis tia hriat bawk hi Nager syndrome ang chi genetic condition hmuh tur awm lo tak a ni. Heng dinhmun pahnihah hian naute ruh leh ruh (cartilage) te chu nausen pum chhungah a thang tha lo va, chu chuan a hmai, kut leh kut hmawr-ah te pawh a inang vek a ni.

Mahse, danglamna pawimawh tak a awm. Miller syndrome hian ke a nghawng bawk , chu chu keah pawh inthlak danglamna engemaw zat hmuh tur a awm tihna a ni. Mahse, Nager syndrome hian ke a nghawng lo tlangpui .

A danglamna pawimawh dang chu heng natna pahnih thlentu genetic mutations hi a ni. Miller syndrome hi DHODH gene a mutation vang a ni a . Nager syndrome hi SF3B4 gene-a mutation vang a nih a rinawm ber (a then phei chuan gene dang pawh a inrawlh thei a, a chhan pawh hriat a la ni lo).

A tawp berah chuan thil pawimawh tlemte i hriat reng tur chu:

Chutiang dinhmun hmuh tur awm lo tak chungchang hriat hian rilru hah leh lungkhamna hi thil pangngai tak a ni. Engpawhnise,Nager syndrome nei naupangte hian damdawi lam enkawlna leh intervention dik tak an dawn hmasak chuan prognosis tha tak an nei thei tih i hriatthiam a pawimawh hle.

Genetic disorders awm chhan dik tak kan hre lo nain, heng natna thlentu genes hi nu leh pa atanga fate hnena kai theih a ni tih hriat reng a pawimawh. So, if you’re planning to become pregnant , i doctor nen genetic testing chungchang sawipui la, genetic condition nei fa neih theihna tur i risk tehna tur a ni.

Nangmah chauh i ni lo tih hre reng ang che. He zinkawng zawh tura puitu leh kaihruaitu tur doctor, therapist leh counselor te an awm a. I fate mamawh hmangaihna, enkawlna leh \anpuina pein, leh damdawi lam thurawn dik tak zawmna hmangin, i fate nun hlawhtling tak neih theihna kawng i hawng thei a ni.

` Nagar Syndrome, Genetic Defects, Hmai dik lo, Ke leh ke ruh dik lo, Naupang hriselna, Pianpui natna, Genetic Counselling