I fa than chhoh dan hi harsatna a ni em? Robinow Syndrome natna hlauhawm tak chungchang hi han sawi ila.

A châng chuan, kan fate hmasâwnna chungchânga thil tê tête hian min tibuai ṭhîn a ni lawm ni? Naupang thenkhat chu an than dan a danglam deuh deuh a, a nih loh leh an taksa peng hrang hrangte chu kan beisei angin a lo thanglian lo. Vawiin hian genetic condition hmuh tur awm lo tak tak kan sawi dawn a ni. Hei hi Robinow Syndrome, a nih loh leh English tawngin ``Robinow Syndrome'' an ti a. He thu i hriat hian hlau suh, a chhan chu hei hi mi tam tak chunga thil thleng a ni lo. Amaherawhchu, mi zawng zawngin kan hriat chian a pawimawh.

Robinow Syndrome hi eng nge ni?

A awlsam zawngin sawi ila, Robinow Syndrome hi genetic condition hmuh tur awm lo tak a ni a, naupang ruhro leh taksa peng dangte hmasawnna a tichhe thei a ni. Entîr nân, naupang ṭhenkhat kut, ke leh kut zungtangte chu a pangngai aia tawi deuh a ni thei. Tin, an ruhro (scoliosis tia sawi bawk), ruh hnuai lam (low rib cage), hmel lan dan te, mipat hmeichhiatna lama harsatna nei te, a chang chuan an thanlenna pawh a tlai thei bawk.

Doctor-te chuan he natna hi hming dang engemaw zat an hmang a ni. Anmahni pawh hriat a tha:

• `Acral dysostosis with facial and genital abnormalities` (chu chu hmai leh genital dik lo, ke ruh ruh lama harsatna awm tihna a ni).
• `Fetal face syndrome` (naute hmai chu nausen pum chhunga nausen hmel ang deuh a nih avangin chutianga an tih).
• Mesomelic dwarfism-small genitalia syndrome (a ke ruh leh taksa peng te tak te te a tawi).
• `Robinow dwarfism a ni` tih hi a ni.
• `Robinow-Silverman syndrome` emaw `Robinow-Silverman-Smith natna` emaw a ni thei.

Chûngte chu hming tam tak awm mah se, damdawi lam dinhmun inang an kâwk vek a ni.

Robinow Syndrome hi chi hnih a awm em?

Ni e, Robinow Syndrome hi chi hnih a awm a. Anni chu:

1. Autosomal recessive type: Hei hi a buaithlak deuhin a lang thei a, mahse a awlsam zawngin sawi ila, hetiang chi hi a lo awm theih nan chuan naupang chuan nu leh pa pahnih hnen atangin a kaihhnawih genetic variation chu a rochun a ngai a ni.

2. Autosomal dominant type: Hetiang chiah hian natna hi a kaihhnawih genetic change chu nu leh pa pakhat atanga rochun a nih pawhin, a nih loh leh genetic change thar randomly a lo awm pawhin a lo awm thei a ni.

Heng chi hnih hi a danglam bik a:

• Natna thlentu genetic mutation a zirin.
• Miin he natna hi a rochun dan a zirin.
• A chhinchhiahna leh a lan chhuah dan azirin.
• Natna nasat dan azirin .

Robinow Syndrome hi engtiang chiahin nge a tlem?

Hei hi a takah chuan thil awm lo tak a ni . Medical record-a a lan dan chuan khawvel pumah autosomal recessive type hi mi 200 aia tlem lovah an awm tawh a ni. Autosomal dominant type pawh hi chhungkaw 50 vel chauh ah hmuhchhuah a ni tawh bawk. Chuvangin hei hi a tlem zia chu i ngaihtuah thei ang.

Engvangin nge Robinow Syndrome hi a lo awm?

Hei hi a chhan ber chu genetic mutation vang a ni . Kan taksaa thil awm zawng zawng hi gene-in a thunun vek a ni. Chuvangin, heng genes-ah hian inthlak danglamna emaw, chhiatna emaw a awm chuan heng dinhmunte hi a lo awm thin.

• Autosomal recessive Robin syndrome hi ROR2 an tih gene a mutation avanga lo awm a ni. Scientist-te chuan he ROR2 gene-in a siam protein hian kan ruhro, thinlung leh kan serhte a tipung a ni an ti. Chuvangin he gene-ah hian harsatna a awm chuan protein chu a insiam tha lo.
• Autosomal dominant Robino syndrome hi gene engemaw zat (FZD2, WNT5A, DVL1, DVL3) a mutations avanga lo awm a ni. Heng genes te hian embryonic development hmasa nena inzawm protein siamnaah pawh an pui bawk. Mahse, an hnathawh dan erawh hriat chian a la ni lo.

Mahse thil mak tak chu, a chang chuan he Robinow Syndrome hi genetic change hmuh loh pawhin a awm thei. Scientist-te chuan hetiang thil hi a thlen chhan chiang takin an la hre lo.

Engtin nge Robinow Syndrome hi rochun a nih?

Hei hi rochun theih dan tlangpui pahnih kan sawi tawh a. Chu chu chipchiar deuhin han thlir ila.

• Recessive disorder angin: Hei hi naupangin gene pangngai lo copy pahnih – nu leh pa pahnih atanga a rochun hian a thleng thin. Hetah hian thil pawimawh tak chu nu leh pa pahnih hi gene kengtu an ni thei a, mahse symptoms an nei lo mai thei . An taksaah gene chu thuruk angin an nei ang mai a ni. Chuvangin, chutiang carrier pahnih chuan fa an neih chuan naupangin autosomal recessive Robin syndrome a neih theihna chance 25% vel a awm a ni. Hei hian naupang zawng zawng hi hetiang dinhmun hi neiin an piang vek dawn lo tihna a ni a, mahse a hlauhawmna a awm.
• Dominant disorder: Hei hi naupangin nu leh pa pakhat chauh atanga gene danglam tak a rochun hi a ni. A nih loh leh, a châng chuan, naute chu nausen pum chhûnga a lo ṭhan chhoh laiin, a chhan hriat lohvin, a lo piang chhuak thei a, chu chu a lo piang chhuak thei a ni. Chutiang random change a awm chhan dik tak sawi a harsa hle.

Chuvangin, a chang chuan mi pakhat chu he genetic mutation hi hre lo pawhin carrier a ni thei. Chuvang chuan a chang chuan naupangin he natna hi chhungkuaa tu mahin an nei lo a nih pawhin a nei thei a ni.

Naupang Robinow Syndrome vei te hian eng symptoms nge a neih?

Hemi chhinchhiahna hi mi hrang hrangah a inang lo thei hle. Natna chi leh a nasat danah a innghat. Kan sawi tawh ang khan autosomal recessive type hian a tlangpuiin symptom tlem a nei tam zawk thei.

Hmaiah thil danglam hmuh tur awmte:

Hetiang natna nei naupangte hian hmel lan dan thenkhat an nei a. A chang chuan "fetal facies" an ti a, a chhan chu nausen pum chhunga nausen hmel lan dan nen an inang a ni. Heng feature hrang hrangte hi:

• Hmai zau tak emaw, chhuak chhuak emaw.
• Beng hi a danglam bik takin a awm thei a, entirnan, lu chungah hniam emaw, a hrual deuh emaw pawh a ni thei.
• Lu pangngai aia lian (`(Macrocephaly)`) .
• A hmui chunglam lai takah groove thuk tak (philtrum) chu a sei a, a thuk bawk.
• Mit chhuak, hmun zau tak nei.
• Hnar tawi, chunglam hawiin.
• Chin emaw chin emaw te tak te.
• Kawng thum ang maia siam.
• Hnar bridge zau tak emaw, sunken emaw (hnar chung lam).

Skeleton-a thil langsar tak takte:

Hengte hi ruh lama inthlak danglamna hmuh tur lian ber berte chu an ni:

• A rilru a buai em em a, a rilru a hah em em bawk a .
• Growth retardation leh tawi te te a ni.
• Ha lam harsatna a awm. Entîr nân, ha tam lutuk, ha hring lo lian lutuk, emaw, hmui hrual (cleft palate) te.
• Rib chu a inzawm khawm thei a, rib thenkhat a awm lo thei bawk.
• Kut leh ke ruh tawi.
• Kut zungtang (kut leh ke) tawi (`(Brachydactyly)`) .

A lan chhuah dan dangte:

Hei bakah hian feature dang pawh hmuh tur a awm a:

• Hmasawnna lama tlai lutuk . Mahse hetah hian sawi tur pawimawh tak chu Robinow Syndrome vei naupang tam tak hian an naupan laiin rilru lama harsatna an nei lo tih hi a ni. Chumi awmzia chu an zir theihna chu a pangngai mai thei tihna a ni.
• Kidney emaw thinlung lama harsatna nei.
• Genitalia lo thanglian lo. A châng chuan naupang chu mipa nge hmeichhia tih chiang taka hriat a harsat theih nân serhte chu a awm thei bawk.

Osteosclerotic Robinow Syndrome hi eng nge ni?

Autosomal dominant Robinow syndrome (a bik takin DVL1 gene-a mutation avanga lo awm) vei mi tlemteah chuan an ruh chu a tlangpui aia thuk emaw, khauh zawk emaw a ni thei Doctor-te chuan he natna hi Osteosclerotic Robinow Syndrome an ti a.

Engtin nge Robinow Syndrome hi hmuhchhuah a nih?

He natna hi naupang taksa pianphung enfiahna hmanga hriat theih a ni tlangpui . Doctor-in naupang chu uluk taka a enfiah hunah chuan a hmaa kan sawi tak symptoms te chu an enfiah ang.

"Aw, doctor, ka naute hmel hi naupang dang nen chuan a danglam deuh deuh... A ke leh ke te chu a tawi deuhin a hria..." Nu leh pa thenkhat chuan hetiang thil hi an rawn ngaihtuah hmasa thin.

Mahse, a natna hriat chian nan chuan, genetic change a awm leh awm loh enfiah nan special genetic test (`(Molecular genetic testing)`) neih a ngai a ni . Hei hi laboratory-ah testing hmanga tih a ni:

• Thisen sample lak a ni
• Saliva sample a ni
• A hmuiah a swab a
• A chang chuan vun hmun tlemte

I chhungkuaa mi pakhatin Robinow Syndrome a vei a nih chuan...

Chutiang a nih chuan doctor-te chuan naupai laiin nausen chu he natna hi test turin an fuih mai thei. Hei atan hian:

• Test pakhat ``Chorionic villus sampling'' tih chu nausen atanga sample te tak te lak a ni.
• A dang pawhin genetic test (`(Genetic amniocentesis)`) tih theih a ni a, chu chu naute chhehvela amniotic fluid sample lak a ni.

Heng test te hi a buaithlak deuh avangin damdawi lam thurawn chauh a ni.

Naupang Robinow Syndrome vei chu engtin nge enkawl a nih?

Hei hi mi hrang hrangah enkawl dan a inang lo . Naupang natna lan chhuah danah a innghat. Vawi tam tak chu field hrang hrang atanga specialist team-in naupang chu an enkawl ang. He team hian:

• Cardiologist – thinlung lam harsatna i neih chuan.
• Dentist, orthodontist, emaw oral surgeon – ha leh hmui lama harsatna nei tan.
• Endocrinologist – Mipat hmeichhiatna lama hmasawnna nena inzawm hormone lama harsatna nei tan.
• Pediatrician – Naupang hriselna zawng zawng enfiah thin.
• Physical therapist – taksa chetna leh taksa hnathawh thatna.
• Orthopaedic surgeon – ruh leh ruhkawr lama harsatna nei tan.

Enkawlna atan a hnuaia mite hi tih theih a ni:

• Ruh natna chu thlawp turin bandage emaw cast emaw bik hnawih thin ang che.
• Ha lama harsatna awmte siamthat nan ha tanpuitu bik (braces leh oral device dang) hmang thin ang che.
• Hormone therapy pe la, chu chuan thanlenna emaw, genital development emaw a tichak thei ang.
• Taksa tichak tur leh hnathawh that nan exercise bik ti thin ang che.
• Skeleton emaw genitals-a thil dik lo awmte siamthatna tur surgery .

Heng zawng zawng bakah hian doctor-te chuan Robinow Syndrome vei leh an chhungte chu genetic counseling zawng turin an fuih bawk . Chu chuan an dinhmun chu hriatthiamna ṭha zâwk nei tûrin a ṭanpui thei a, chu chu engtin nge an rochun tih te, leh nakin lawka fa an neih hunah eng nge an fimkhur tûr tihte chu a hriatthiam theih nân a ṭanpui thei a ni.

Robinow Syndrome hi a veng thei ang em?

Dik tak chuan, nupa tuak khatte chu preimplantation genetic testing an neih loh chuan Robinow Syndrome thlentu genetic mutation hi ven theih a ni lo. Nangmah emaw, i chhungte zinga tu emaw hian hetiang natna hi i nei a nih chuan, a tha ber chu doctor emaw, genetic counselor emaw nena inbiakna neih hi a ni. Anni chuan he dinhmun hi nakin lawka thlahte hnena thlen theihna chance chungchangah thurawn an pe thei che a ni.

Robinow Syndrome vei hmalam hun chu eng nge ni?

Hetiang natna vei tan hian mi hrang hrangah prognosis a inang lo . A lan chhuah dan leh a nasat danah a innghat. Lung leh kal lama harsatna awm lo hian dam rei zawng a ti tawi thei a ni. Mahse, mi tam zawk chuan damdawi lam enkawlna leh puihna tha tak nen nun pangngai an hmang thin.

Ka fa hian Robinow Syndrome a nei a nih chuan doctor hnenah eng nge ka zawh belh ang?

I fate zingah he natna hi i vei tih hmuhchhuah a nih chuan doctor-te hnenah heng zawhnate hi i zawt thei ang. Hengte hi i tan a \angkai hle ang:

• "Doctor, ka fa hian eng ang Robinow Syndrome nge a neih? " (Chu chu autosomal recessive nge dominant tihna a ni).
• " Ruh emaw, mipat hmeichhiatna lama thil dik lo siam\hat nan surgery hi kan ngaihtuah tur em ni? "
• "Ka fa hian hmasawnna a tikhawtlai dawn em ni ?"
• " Thinlung emaw, kal emaw harsatna i nei em ?"
• " Eng ang specialist nge kan hmuh ang? Engzat nge kan hmuh ang?"
• " Eng symptom nge ka ngaihtuah bik tur? Chutiang thil ka hmuh chuan ka biak tur che em ni?"
• " Hetiang dinhmun hian ka fa dam chhung a ti tawi dawn em ni? "
• "Hetiang dinhmun hi kan nunpui thei tur support group an awm em?"
• " Genetic counselling hi i rawt em ?"
• "Kan chhungkaw dang zawng zawng tan genetic testing neih hi a tha em?"

Heng zawhnate hi rilruah vawng reng ang che. Anmahni zawh hian nang leh i fa tan enkawlna leh puihna tha ber i hmu thei ang.

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

Robinow Syndrome hi genetic condition hmuh tur awm lo tak a ni. Ruh dik lo, hmêl danglam tak, mipat hmeichhiatna lama harsatna leh harsatna dangte a thlen thei a ni. Don't worry , hei hi mi tam zawkah chuan a thleng lo.

Mahse, i fain heng chhinchhiahnate hi a nei nia i hriat chuan doctor thiam tak pan nghal rawh . Specialist-te chuan ruh leh serh chhunga thil dik lo thenkhat chu an siam tha thei a, i fa chu a thawk tha zawk thei bawk. Damdawi lam enkawlna mumal, taksa enkawlna, leh chhungkaw hmangaihna leh \anpuina an neih chuan heng naupangte hian an theihna zawng zawng an hlen chhuak thei a ni.

` Robino syndrome, genetic diseases, naupang thanlenna, ruh deformities, hmel lan dan, genetic counselling, natna hmuh tur awm lo