Apert Syndrome hi eng nge ni? I naute hian heng symptoms te hi a nei em? Kan sawi dun teh ang!

I naute piang thar lu pianzia, a hmai, a nih loh leh a ke leh keah thil danglam tak tak i hmu em? A châng chuan nu leh pa kan nih angin heng thilte hi kan hmuh hian kan buai deuh ṭhin a ni lawm ni? A tam hle mai. Vawiin hian Apert syndrome , natna hlauhawm tak, heng taksa lama inthlak danglamna thenkhat neia naute piangte nghawng thei tur chungchang kan sawi dawn a ni. Lungngai suh, thumal awlsam takin engkim hi han sawifiah ila.

Apert Syndrome hi eng nge ni tak tak?

A awlsam zawngin, Apert syndrome hi thil awm lo tak a ni a, i naute luruh ruh inkar, a nih loh leh ‘sutures’ kan tih ang chi ruhte chu an lo awm hmain an inzawm khawm a ni Doctor te chuan hei hi craniosynostosis an ti a . Suture te chu a khar rang lutuk chuan naute thluak a lo seilian chhoh zel angin luruh hian hmun zau tak a nei lo. Hei hian luruh pianzia chauh ni lovin, hmai ruh, kut zungtang leh ke ruh ang chi thilte pawh a tidanglam thei a ni.

Lei khur atanga thing te tak te lo thang chhuak ang maiin han ngaihtuah teh, zalen takin a lo thang thei lo. Hei hi genetic condition a ni a, chu chu genes inthlak danglamna avanga lo awm tihna a ni. A châng chuan ‘autosomal dominant’ trait angin rochun theih a ni . Hei hian a awmzia chu nu leh pa pakhatin genetic change a neih chuan an fa pawhin he natna hi a neih theihna chance 50% a awm tihna a ni.

Apert Syndrome hian tute nge a vei?

Apert syndrome hi a awm lo hle a ni . Naupai tirh lama lo awm, genetic mutation avanga lo awm a ni tlangpui. He mutation hi nu leh pa atanga rochun theih a ni a, de novo a thleng thei bawk. Hei hi nuin naupai laia a tih a ni lo va, a chunga thil thleng a ni lo tih hriatthiam hi a pawimawh ber a ni. Chuvangin nangmah leh nangmah in dem suh.

Hei hi engtiang chiahin nge a hluar?

Hei hi a takah chuan a tlem hle. Statistics atanga a lan dan chuan naute piang 65,000 zinga pakhat vel chauhvin Apert syndrome an nei a ni. Chuvangin he dinhmun hi a tlem zia chu i hmu thei ang.

Naute Apert Syndrome vei te hian eng symptoms nge a neih?

Naute luruh chhunga suture te chu a hun hmaa khar a nih avangin, chu chu craniosynostosis an tih natna a ni a, naute hian thil danglam bik engemaw zat a nei thei a ni. Heng features te hi naute pakhatah hian a inang lo deuh thei a ni. A langsar ber berte chu:

• Luruh: 1.1.
• Naute lu chu a tlangpui aia sang zawkin a lang thei a, a tip chu a hrual (hei hi acrocephaly an ti) .
• Lu hnunglam chu a flat thei.
• Hmai hi a sang emaw, a zau emaw a lang thei.
• Naute lu chunga ‘soft spot’ emaw ‘follicle’ emaw chu khar a tlai thei.
• Mit:
• Mit chu a tlangpui aia hmaiah a inhlat zawk thei.
• Mit chu a bulging emaw, hnuai lam hawia slanting emaw angin a lang thei.
• Hmai:
• Hnar hi a flat emaw, beak ang emaw pawh a ni thei.
• Cleft palate a awm thei .
• Hmai chu a sir lehlamah asymmetrical angin a lang thei.
• Kut leh ke: 1.1.
• Kut zungtang chu a tawi thei a, ke ruh lian pawh a zau thei bawk.
• Kut zungtang emaw ke ruh emaw chu vun hmanga inzawm emaw, inzawm emaw a ni thei (hei hi syndactyly an ti) , swimming web ang maiin.

Naute zawng zawng hian heng symptom zawng zawng hi an nei vek dawn lo tih hre reng ang che. Doctor chu heng symptoms te dik taka hrechhuak thei leh diagnosis siam theitu a ni.

Engtin nge Apert Syndrome hian naute taksa a nghawng leh?

Hetiang dinhmun hian naute hmel a tidanglam mai bakah taksa peng dangte pawh a nghawng thei a ni.

• Thluak: Luruh a khar nghal vat chuan thluak chungah pressure a pung thei a ni. Hei hian naute zirlai leh ngaihtuahna ( cognitive development ) a nghawng thei a ni. Mild to moderate intellectual disabilities pawh a awm thei bawk.
• Beng: A tam zawkah chuan naute lu sir lehlama ruh te hi a khar hmasa ber thin. Hei hian beng than dan a nghawng thei a, beng natna emaw, hriatna hloh fo emaw a thlen thei a ni.
• Mit: Mit chhuak, slanted, emaw far-set emaw avanga mit lama harsatna a awm thei.
• Lungs: A nasat dan azirin hnar pianzia hian thawk harsatna emaw sleep apnea ( mut laiin thawkna kawng a tihkhawtlai avanga thawk hah) a thlen thei.
• Vun: I naute vun hian oil a siam tam thei a, chu chuan hmai vun na tak a thlen thei a ni. Tin, hmun thenkhatah (entir nan, mitmeng hnuaiah) thawk hah lutuk ( hyperhidrosis ) leh sam tlakchhamna i hmu thei bawk.
• Ha: Nausen ha a chhuah tan chuan a hmuiah hmun a awm tawk lo va, a ha chu a khat lutuk thei a ni. Hei hian ha lam harsatna a thlen thei a ni. Ha thenkhat chu a bo thei a, ha enamel-ah pawh thil dik lo a awm thei bawk.

Eng thilin nge Apert Syndrome hi a thlen?

A chhan ber chu FGFR2 (Fibroblast growth factor receptor-2) a ni.Fibroblast growth factor an tih gene-a mutation awm. He gene hian kan taksa ruhro (skeletal system) tihhmasawn nan a mawhphurtu lian ber a ni. He gene hi a inthlak danglam chuan heng receptor te hian ‘fibroblast growth factors’ an tih signal te nen hian an inbiak tha lo hle. Chuvang chuan embryonic stage-ah ruh inkar joint (sutures) te chu a khar nghal vat thin. Heng suture te hi khar nghal vat mahse naute thluak chu a thang zel a ni. Tichuan lu ruh ruh, a bik takin hmai leh lu sir ruh te chu a pangngai lo takin a lo piang ta a ni. Heng ruhte hi mumal lo taka siam a nih avangin taksaah pianphung chi hrang hrang a awm a ni.

Engtin nge Apert Syndrome hi hmuhchhuah a nih?

A tam zawkah chuan he natna hi naute pian hnuah hmuhchhuah a ni. Mahse, a châng chuan naupai laiin a hmaa hriat theih a ni a, naute ruh than dan chu nau neih hmaa 2D emaw 3D ultrasound emaw MRI scan emaw hmanga en a ni.

Naute a pian hnuah doctor chuan taksa enfiahna kimchang a nei ang a, naute taksaah thil danglam a awm leh awm loh a enfiah ang. Tichuan, imaging test , CT scan emaw MRI emaw te chu heng pianpui chhiatna te hi finfiah turin an ti ang.

Doctor chuan genetic testing neih a rawt bawk ang . Hei hian a hmaa kan sawi tawh FGFR2 gene-a mutation awm leh awm loh a enfiah ang. Hei hian diagnosis chu a nemnghet lehzual ang. He naute tan hian nau piang thar screening pangngai zawng zawng tih vek a ni ang. A bîk takin, he dinhmun hian hriatna hloh a thlen theih avângin, hriatna test chu ngaihven bîk a ni ang .

Apert Syndrome hi engtin nge enkawl a nih?

Enkawl dan tur chu i naute dinhmun nasat danah a innghat a ni. A tam zawkah chuan natna lanchhuahna tihziaawmna tur enkawlna ber chu operation hi a ni.

• Luruh emaw thluak emaw tichhe thei harsatna chhinchhiahna a awm chuan (craniosynostosis emaw hydrocephalus - thluaka tui awmkhawm): Nau piang atanga thla hnih leh thla li inkarah thluaka tui awm tawh chu paih chhuakin pressure tihhniam nan tube te tak te ( shunt ) dahin operation tih theih a ni.
• Reconstructive emaw corrective surgery emaw tih tur: 1.1.
• Mit siamthat nan operation tih a ni.
• Jaw ruh siam thatna surgery ( osteotomy ) tih a ni.
• Chin plastic surgery ( genioplasty ) tih a ni.
• Hnar plastic surgery ( rhinoplasty ) tih a ni.
• Kut zungtang leh ke ruh inzawmkhawm (fuseed) te inthen nan surgery neih a ni.
• Luruh pianzia siamthat nan operation ( cranioplasty ) tih a ni.

Side effect tihziaawmna tur damdawi dang a awm em?

Ni e, a dik tak zet. I naute hian a theihna zawng zawng a thleng thei a, i doctor-in a rawt angin a rang thei ang bera enkawlna i tan chuan. Hetiang enkawlnaah hian:

• Hearing aids i neih chuan hriatna lama harsatna i neih chuan.
• Thlawhna kawng a inkharkhip avanga thawk harsatna i neih chuan thawkna machine emaw, enkawlna dang emaw i mamawh mai thei .
• Therapist hrang hrang nen hun ruat sa. Entîr nân, taksa lam enkawlna , hnathawhna lama enkawlna, leh thusawi hmanga enkawlna .
• Naute hmui leh ha enkawl bik.
• Mit lama harsatna avanga mit hmuh dan enfiah fo thin.

Apert Syndrome hi a dam kim thei ang em?

Vanduaithlak takin tunah hian Apert syndrome hi damdawi a la awm lo. Mahse, surgery hian symptoms nasa takin a tihziaawm thei a, naute chu nun pangngaia a nunpui thei bawk.

Ka fain Apert Syndrome a vei theihna tur tihtlem nan ka tih theih tur a awm em?

Apert syndrome hi genetic condition a nih avangin naupai laiin nu leh pate hian an tih theih loh tak tak a ni. Mahse, fa neih i tum a nih chuan doctor pan la, genetic counseling i nei thei a, chu chu i fate hnena i thlen theihna tur hlauhawm i nih leh nih loh i en thei ang. Genetic counseling hian nakin lawkah he natna nei fa neih theihna tur a hriatthiam theih nan leh nu leh pa tharte tanpui nan a pui thei che a ni.

Ka naute hian Apert Syndrome a vei a nih chuan eng nge ka beisei ang?

Apert syndrome hi dam chhung zawnga natna a nih avangin damdawi a awm lo. Naute hi a pian tirh atanga thluaka pressure tihziaawmna turin operation a mamawh fo a, chumi hnuah reconstructive surgery eng emaw zat neih a ngai bawk. Specialist hrang hrang nena close follow-up neih a pawimawh hle.

Mahse, operation leh enkawl chhunzawm zel a nih chuan Apert syndrome vei nausen piangte chu nun pangngaiin an hmang thei a ni. An lo puitlin chhoh zel a, harsatna an neih apiang sawipui turin an doctor nen inbiak reng tur a ni. I naute a lo seilian chhoh zel chuan an mit, an ha leh an hriatna chu enfiah fo tur a ni. A châng chuan, natna lan chhuahna kal zelte enkawl nân operation tam zâwk neih a ngai thei bawk.

Engtikah nge ka doctor ka hmuh ang?

I naute zingah heng symptoms te hi i hmuh chuan doctor pan nghal rawh:

• Thâwk harsa i neih chuan .
• Beng natna i neih fo emaw, thupek awlsam tak ngaihthlak harsa i tih emaw chuan.
• Kum nena inmilHmasawnna milestone a thlen loh chuan.
• Surgery hmun chu natna (red, swollen, pus-like) a nih chuan.

Doctor hnenah eng zawhna nge ka zawh ang?

Zawhna emaw, ngaihtuahna emaw i neih apiang chu i doctor nen sawiho rawh. Entîr nân, hetiang zawhnate hi i zâwt thei ang:

• Ka naute diagnosis atan eng treatment nge i rawt?
• Surgery neih hian eng hlauhawmna nge a neih?
• Ka naute lu pianzia hian a zirlai a nghawng em?
• Fa dang ka neih chuan chu naupang pawhin Apert syndrome a vei theihna chance a awm em?

Apert Syndrome nen hian eng natna dang nge inang?

Apert syndrome symptom thenkhat hi nausen lo piang chhuak laia luruh ruh inzawm chak lutuk (craniosynostosis) avanga natna dang nen a inang thei bawk. Chung dinhmun thenkhat chu:

• Carpenter syndrome: Apert syndrome ang bawkin hei hi naute lu ruh chu a hun hmaa a inzawm khawm a, luruh a dik lo tihna a ni. Syndactyly (kut zungtang leh ke ruh inzawmkhawm) a thlen thei bawk. A danglamna chu Carpenter syndrome hi nu leh pa pahnihin naupang hnena gene an pek (autosomal recessive) hian a awm thin.
• Crouzon syndrome: Hei hian naute luruh a fuse rang lutuk avangin hmai a tidanglam bawk.
• Pfeiffer syndrome: Hetiang dinhmunah hian luruh leh hmai dik lo te nen hian ke ruh lian leh ke ruh lian te chu ke ruh dang aiin a zau zawk thei a, ke ruh dang atanga hlaah a inher thei bawk.
• Saethre-Chotzen syndrome: Hei hi luruh ruhte chu a hun hmaa an inzawm khawm a, chu chuan hmêl lan dân inang lo, asymmetrical tak a siam a ni.

Apert Syndrome leh Crouzon Syndrome hi eng nge an danglamna?

Apert syndrome leh Crouzon syndrome te hian thil chi hrang hrang an nei ve ve a. An pahnih hian nausen lo piang chhoh laiin luruh ruh (skul joints) a hun hmaa khar vang a ni. Heng pahnihah hian luruh hi a pianzia a danglam thei a, hmai pawh a sunken in (midface hypoplasia) angin a lang thei bawk. Mahse, a danglamna ber chu Apert syndrome-ah hian luruh bakah taksa peng dang a nghawng a, a bik takin syndactyly a ni a, hei hi kut zungtang leh ke ruh inzawmkhawmna a ni. Crouzon syndrome-ah chuan luruh pianzia hi a nghawng ber a ni.

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

Apert syndrome hi genetic condition a ni a, naute hmel leh an taksa hnathawh thenkhat a tidanglam thei a ni. Damdawi awm lo mah se, surgery leh enkawlna hrang hrangte hian natna lanchhuahna control-na kawngah a pui thei a, naute chu a nun pangngai leh famkim thei ang bera a awm theih nan a pui thei bawk.

I chhungkuaa mi pakhatin Apert syndrome a nei a, fa i beisei a nih chuan genetic counseling lak a pawimawh hle . Hei hian i mamawh thu leh kaihhruaina a pe ang che.

A pawimawh ber chu nangmah chauh i ni lo tih hriat hi a ni. Doctor, counselor, leh naupang natna inang nei nu leh pate hnen atangin tanpuina i dawng thei a ni. I rilrua thil awm zawng zawng chu i doctor hnenah sawipui hlau suh.

` Apert Syndrome, Apert Syndrome, Genetic Diseases, Luruh chhiatna, Ke leh ke ruh tliak, Naupang hriselna, Craniosynostosis