I fa hian heng symptoms te hi a nei em? Shprintzen-Goldberg Syndrome (SGS) chungchang hi i zir dawn a ni.

Vawiin hian rare genetic condition kan sawi dawn a, chu chu mi zawng zawngin an hmu lo tihna a ni. Shprintzen-Goldberg Syndrome (SGS) tih a ni. He hming hi i hre lo pawh a ni thei. Mahse chutiang dinhmun hriat chian a pawimawh hle a, a chhan chu chutih hunah chuan a natna lan chhuah dan chu kan hre thuai thei a, damdawi lam thurawn tul tak tak kan dawng thei bawk.

Shprintzen-Goldberg Syndrome (SGS) hi eng nge ni?

A awlsam zawngin sawi ila, Shprintzen-Goldberg Syndrome (SGS) hi genetic condition hmuh tur awm lo tak a ni a, kan taksa peng hrang hrang a nghawng a ni. A chhan ber chu naupang hmel lan dan danglam tak tak, luruh ruhte a hun hmaa inzawmkhawm (hei hi ``Craniosynostosis'' an ti), ruh inthlak danglamna chi hrang hrang, thluak leh nervous system lama harsatna (entir nan, rilru lama hmasawnna tihkhawtlai), leh a chang chuan thinlung lama harsatna engemaw zat a neih tir thin.

He natna atan hian hming dang pahnih hman a ni a, chungte chu ``Marfanoid-craniosynostosis syndrome'' leh ``Shprintzen-Goldberg craniosynostosis syndrome'' te an ni. Hmingte hi a buaithlak deuh niin a lang a, mahse a pawimawh ber chu hei hi genetic condition a ni tih hriatthiam hi a ni.

SGS hi engtiang chiahin nge a awm?

Shprintzen-Goldberg Syndrome hi a takah chuan a awm lo hle. Tun thlengin medical record-ah he natna vei hi mi 50 aia tlem lo chauh a lang. Chumi awmzia chu khawvelah hian he natna vei hi kutdawh tlemte chauh an awm tihna a ni.

Hemi chungchanga thil dang chu SGS symptoms hi genetic condition dang pahnih Marfan Syndrome leh Loeys-Dietz Syndrome te nen a inang deuh a, chuvangin doctor te tan chuan dik taka hriat a harsa deuh thei bawk. Chuvangin, he natna hi mi engzat nge nei tak tak tih hi sawi chian a harsa hle.

Shprintzen-Goldberg Syndrome, Marfan Syndrome leh Loeys-Dietz Syndrome te hi eng nge an danglamna?

Hêng dinhmun pathumte chhinchhiahna hi inang lo tak anga lang mah se, genetic mutation hrang hrang avânga lo awm a ni . A bik takin SGS vei te hi rilru lama harsatna nei an tam zawk. Tin, Marfan Syndrome leh Loeys-Dietz Syndrome nei te aiin thinlung natna vei an tlem zawk bawk. Mahse, heng zawng zawng hi mi tin a inang lo thei tih hre reng ang che.

Shprintzen-Goldberg Syndrome (SGS) natna hi engte nge ni?

A tam zawkah chuan SGS awm chhan ber chu kan taksaa `(SKI)` an tih gene a mutation vang a ni. He SKI gene hian protein a siam a, chu chuan kan cell-a thil pawimawh tam tak, thanlenna, inthen darh, che vel, puitlin leh thihnaah te a pui thin.

Ngaihtuah teh, he SKI protein hi kan taksa tissue hrang hrangah a awm avangin he gene-ah hian inthlak danglamna a awm chuan taksa peng hrang hrang a nghawng thei a ni. Chuvang chuan SGS-ah hian symptom hrang hrang kan hmu thin.

Mahse, SGS vei ṭhenkhat chuan SKI gene mutation an nei lo a, chuvangin scientist-te chuan hetiang dinhmunah hian he natna thlentu dang awm thei chu an la chhui mek a ni.

Hei hi thlah kal zel atanga lo chhuak thil a ni em?

A tam zawkah chuan Shprintzen-Goldberg Syndrome hi rochun a ni lo.He genetic mutation hi random takin a thleng tlangpui a, chu chu naupai hnuah embryonic stage-ah a thleng thin. Chuvangin he natna vei tam tak hian chhungkaw history-ah he natna hi an nei lo.

Mahse, very rarely , he natna hi nu leh pa atanga fa hnenah a kai thei. A pass a nih chuan autosomal dominant pattern-ah a awm a ni. A awlsam zawngin, naupangin nu leh pa pakhat chauh aṭangin mutated gene copy chu rochun mah se, naupang chuan chu natna chu a la nei thei tho tihna a ni.

Shprintzen-Goldberg Syndrome (SGS) natna lan chhuah dan chu engte nge ni?

SGS natna lan chhuah dan hi mi hrang hrangah a inang lo thei hle. Mi thenkhat chuan symptoms na lo tak tak an nei a, thenkhat erawh chuan symptoms na tak tak an nei thei thung. Heng symptoms te hian taksa peng hrang hrang a nghawng thei a ni.

Luru ruh inzawmkhawm hmaa chhinchhiahna (`(Craniosynostosis)`):

Naute lu ruhte chu a hun hmaa a inzawm khawm chuan, nausen pum chhungah emaw, nau piang lai emaw pawh ni se, chu chu ``Craniosynostosis'' an tih natna a ni a, a lan chhuah dan chu:

• Lu sei tak, tawi tak.
• Mit inkar hlat zawng tihpun, mit hmalam pan emaw, hnuai lam hawia inher emaw.
• Palate sang tak, tawi tak (kawng chung lam).
• Hmai sang tak, langsar tak.
• A hnuai lam hook te tak te.
• Beng hi a tlangpui aia hniam zawka dah a ni a, a chang chuan hnunglam hawi a ni bawk.

Ruh lama thil danglam dangte:

Hei bakah hian ruhroa inthlak danglamna dang pawh hmuh tur a awm a, chungte chu:

• Joint hypermobility a awm thei.
• Clubfoot a ni.
• Chest hmalam atanga chhuak emaw, in (Pectus excavatum/carinatum) chhunga thun emaw.
• Scoliosis natna (Scoliosis) a ni.
• Kut zungtang nghet taka ben (`(Camptodactyly)`).
• Kut leh ke pangngai aia sei zawk.
• Kut zungtang sei tak, sei tak (`(Arachnodactyly)`). Ṭhenkhat chuan rulhut ke ang mai an ni an ti.

Mi dang thenkhat pawhin heng ang symptoms hi an nei thei bawk:

• Thluak thil dik lo, entirnan, thluaka tui tam lutuk (hydrocephalus).
• Hmasawnna hun sawn hlat leh rilru lama harsatna nasat leh zau lo.
• Digestive system lama harsatna, entirnan constipation emaw, pum chhunga empty tlai (Gastroparesis) emaw a awm thei.
• Pum emaw, pelvic emaw hernia (`(Hernias)`) a awm thin.
• Vun a hring, a kal tlanga hmuh theih ang maia awm, leh a hliam awlsam.
• Thâwk harsa.
• Muscle chak lohna (`(Hypotonia)`). Hei hian taksain nunna nei lo anga a hriatna dinhmun a kawk a ni.

Lung lam natna langsar lo tak tak: 1.1.

Hengte hi mi zawng zawngah a thleng vek lo a, mahse mi thenkhat chuan hetiang ang thinlung natna hi an nei thei a ni:

• Aortic aneurysm (aorta bang chak lohna).
• Thisen chu hnunglam hawiin a luang a, a chhan chu aortic valve a khar tha lo (Aortic regurgitation).
• Aorta zung lian zawk (`(Aortic root dilation)`).
• Heart valve atanga thisen chhuak (`(Mitral valve regurgitation)`).
• Mitral valve prolapse (thinlung mitral valve hnathawh dik loh).

A pawimawh ber chu SGS vei zawng zawng hian heng symptoms zawng zawng hi an nei vek lo. Mi thenkhat chuan tlemte chauh an nei thei a, a nasat dan pawh a inang lo thei bawk.

Engtin nge Shprintzen-Goldberg Syndrome (SGS) hi hmuhchhuah a nih?

SGS diagnose hi a harsa deuh thei. Ka sawi tawh ang khan, natna awm lo tak a nih avangin leh Marfan Syndrome emaw Loeys-Dietz Syndrome emaw nen a inthlau thei a, a chang chuan diagnosis hi a tlai thei bawk.

Doctor chuan natna lan chhuah dan leh chhinchhiahna a zirin a diagnosis a siam ber a ni. Chumi awmzia chu naupang taksa pianphung, hmasawnna leh hriselna lama harsatna dangte ngun taka enfiah a ni. A châng chuan genetic testing hmangin SKI gene mutation a awm tih a chiang thei bawk. Mahse, he gene mutation nei lote hian SGS an vei thei bawk avangin tunah hian test bik dang, diagnosis-a pui thei tur a awm lo.

Shprintzen-Goldberg Syndrome (SGS) hi engtin nge enkawl a nih?

Vanduaithlak takin tunah hian he natna hi damdawi chiang tak a la awm lo. Shprintzen-Goldberg Syndrome enkawlna tum ber chu a natna lan chhuah dan enkawl leh damlo chu a nun tha thei ang bera a awm theih nan tanpui a ni.

Enkawl dan pawh a inang lo thei a, damlo natna lan chhuah dan azirin. Entirna tlemte chu hetiang hi a ni:

• Ke emaw hnungzang emaw (`(braces)`) vuah hmanga kal awlsam zawka siam.
• Feeding tube hman, a tul chuan ei leh in tha tak neih theih nan.
• Lung natna enkawlna atana damdawi pek.
• Luruh, ruhro emaw, rilru chhunga ruh lama harsatna emaw, ruh lama harsatna awmte siamthatna tur operation.
• Thli kawng a inkhar a nih chuan kawr hma lamah surgical opening (tracheostomy) siam theih a ni.

Tin, i doctor chuan kum khatah vawi khat emaw kum hnih danah emaw heng test te hi a rawt thei bawk a, i dinhmunah danglamna a awm leh awm loh hriat theih nan a pui thei che a ni:

• Ruh density test a ni.
• Echocardiogram test hmanga thinlung enfiah a ni.
• Magnetic resonance angiography (MRA) emaw, computed tomography angiography (CTA) emaw hmanga thisen kalna kawng enfiah a ni.
• Skeleton-a inthlak danglamna awm leh awm loh enfiah (X-rays).

Shprintzen-Goldberg Syndrome vei enkawl tur chuan specialist team a ngai mai thei. He team-ah hian specialist te pawh an tel thei a, chungte chu:

• Cardiologist a ni
• Craniofacial surgeon (lu leh hmai ruh surgeon) .
• Geneticist lam thiam a ni
• Thluak leh thluak lam enkawltu (`(Neurosurgeon)`)
• Occupational therapist - Mite nitin hna awlsam zawka thawk thei tura puitu.
• Mit lam doctor - mit lama harsatna nei (e.g. myopia) tan.
• Oral surgeon - Ha leh hmui nena inzawm harsatna nei tan.
• Orthopaedic surgeon (ruh, ruh leh ruhro surgeon) .
• Naupang enkawltu doctor
• Physical therapist - Incheina leh taksa hnathawh thatna tura puitu.
• Psychologist a ni
• Radiologist (`(Radiologist)`) - damdawi lam thlalakna atan.
• Speech therapist (`(Speech therapist)`) - tawng harsatna nei tan.

Heng mi zawng zawngte puihnain damlo enkawlna leh enkawlna tha ber kan pe thei a ni.

Shprintzen-Goldberg Syndrome (SGS) hi ven theih a ni em?

Tunah hian Shprintzen-Goldberg Syndrome thlentu genetic mutation hi ven theih a la ni lo. Hei hi a chhan chu random taka a thleng fo vang a ni. Tin, SKI gene tih loh chu eng thil dangin nge a thlen tih pawh scientist te chuan an la hre chiang lo.

Shprintzen-Goldberg Syndrome (SGS) natna vei dam rei zawng hi engzat nge ni?

SGS vei dam rei zawng (prognosis) hi a natna nasat danah a innghat a ni. Symptoms na lo tak tak nei tan chuan dam rei zawng hi a nghawng nasa lo thei. Mahse, thluak, thinlung emaw, chaw ei kawng emaw nasa taka nghawng a neih chuan dam rei zawng chu a tawi thei a ni.

Shprintzen-Goldberg Syndrome (SGS) chungchangah hian ka doctor hnenah eng nge zawh belh tur?

I fain Shprintzen-Goldberg Syndrome a vei tih i hriat chuan zawhna tam tak i nei mai thei. Chutiang hunah chuan i medical team-te zawhna zawh hi a tha hle ang:

• He genetic mutation hi rochun a ni em, a nih loh leh a lo thleng mai mai em ni?
• He dinhmun hian naupang taksaa eng system nge a nghawng?
• Ka fa hian eng enkawlna nge a mamawh?
• Emergency medical attention mamawhna symptom emaw sign emaw chu engte nge ni?
• Ka fa hian hmasawnna lama harsatna emaw, rilru lama harsatna emaw a nei ang em?
• Hetiang dinhmun hian ka fa dam chhung a ti tawi dawn em ni?
• Eng ang specialist nge kan hmuh ang? Engtianga zingin?
• Ka fa ruh, thinlung, thisen kalna leh thluak te hi enfiah fo tur em ni?
• Hetiang dinhmun hi kan nunpui thei tur support group an awm em?
• Genetic counselling emaw test emaw hi i rawt em?

Shprintzen-Goldberg Syndrome hi genetic condition awm lo tak ni mahse, a hriat chian a pawimawh a, a rang thei ang bera doctor thurawn lak a pawimawh. I fa hian heng symptoms te hi a nei nia i hriat chuan specialist te zawt la, a dik taka a hriat theih nan.

A tawp berah chuan hei hi hre reng ang che (Take-Home Message) .

Shprintzen-Goldberg Syndrome (SGS) hi genetic condition a awm lo hle a, naupang hmai, ruhro, thluak leh thinlung thlengin a tidanglam thei a ni.Hei hi rochun theih a ni a, a nih loh leh random takin a thleng thei bawk.

Damdawi awm lo mah se, a natna lan chhuah dan enkawlna atana puitu tur enkawlna chi hrang hrang a awm. Specialist team te puihnain i fa chu a tha thei ang bera nung thei a ni. I fain heng symptoms te hi a nei nia i rinhlelh chuan Doctor biak pawh hlau suh. A hmaa hriatchhuah leh enkawl dan dik chuan danglamna nasa tak a thlen thei a ni. Nangmah chauh i ni lo tih hre reng ang che. Heng dinhmunte hmachhawn mek chhungkawte tanpui turin support group leh resources a awm a.

` Shprintzen-Goldberg Syndrome, SGS, Genetic Diseases, Craniosynostosis, SKI Gene, Ruh lam thil dik lo, Hmasawnna tlai, Natna hmuh tur awm lo