Barber Say Syndrome chungchanga i hriat tur: I naute hian heng symptoms te hi a nei em?

Nausen piang thar hi chhungkaw tan chuan lawmawm tak a ni, a ni lawm ni? Mi zawng zawngin naute cuteness hmuh chu an nghakhlel hle. Mahse, a châng chuan, a tlem hle pawh ni se, kan tê tê hmel lan dâna inthlâk danglamna engemaw zat kan hmuh hian nu emaw, pa emaw chuan a lungngai hle thei a, a hlauthawng hle bawk. Chutiang chiah chuan Barber Say Syndrome hi khawvela mi tlemte chauhvin an awm a, chu chu genetic condition a ni. Hemi chungchang hi vawiinah hian chipchiar deuhin han sawi ila, a chhan chu hei hi hriat chian a pawimawh em em a ni.

Barber Say Syndrome hi eng nge ni?

A awlsam zawngin, Barber-Sey syndrome hi genetic condition hmuh tur awm lo tak a ni . Congenital a ni a, pian tirh lamah a awm tihna a ni . Hetiang dinhmun hian nausen piang thar taksaah hian danglamna emaw, a danglamna emaw a thlen thei a, a bik takin pawn lam lan dan, hmaiah te a thlen thei a ni.

Mahse hetah hian hriat reng tur pawimawh ber chu he dinhmun hian naute chhungril taksa peng emaw, hriat theihna (cognition) emaw a nghawng lo tlangpui a ni. Chumi awmzia chu naute ngaihtuahna leh zir dan chu a pangngai reng thei tihna a ni. Mahse, heng natna lan chhuah dan leh a nasat dan hi nausen hrang hrangah a inang lo thei. Naute thenkhat chuan hetiang hian an tawng thei:

• Hmai lam hawi danglam tak tak.
• Sam lo sei lutuk (hypertrichosis) .
• Vun te tak te, chhe thei lo (atrophic) .

He natna hi tuin nge nei thei ang? Engtiang chiahin nge a hluar?

Barber-Say syndrome hi genetic condition a nih avangin tu pawh a nghawng thei a ni. Mahse, a natna hi a awm lo hle a ni . Khawvel puma nau piang maktaduai khat zinga pakhat aia tlem lovah a awm thin. Scientist-te chuan United States ang ramah hian he natna vei hi mi 1 atanga 300 inkar vel an awm niin an ngai. Chuvangin, hei hi a tlem zia chu i ngaihtuah thei ang, a dik em?

Eng nge a lan chhuah dan? Engtin nge i hriat chian?

Barber-Say syndrome symptoms hi pian tirh atangin hmuh theih a ni (congenital) . Amaherawhchu, a hmaa kan sawi tawh ang khan nausen zawng zawng hian natna lan chhuah dan inang an nei vek dawn lova, a nasat dan pawh a inang lo thei bawk.

Hmaiah hian thil chiang tak tak hmuh tur a awm

Hetiang dinhmun hian naute hmelah hian danglamna langsar tak tak a thlen thei a ni. Entir nan:

• Mitmeng awm lohna emaw, a lo thang tha lo hle emaw .
• Mit inkar zau tak .
• Mitmeng awm lohna.
• Pawn lam hawia mitmeng .
• Naute mitmeng kil kil inkar, mitmeng chunglam leh hnuai lam inhmuhkhawmna hmun chu a pangngai aia lian a ni.
• Hnar a rawn inher chhuak .
• Hnar lian tak, zungbun zungbun.
• Hnar bridge zau tak a ni.
• Kawng zau tak.
• Ha a chhuak tlai .

Taksa mizia dangte

Facial features bakah hian feature dang pawh i hmu thei a, chungte chu:

• Naute taksa tam zawkah sam sei dan pangngai lo, tam lutuk (hypertrichosis) a awm .
• Vun chu a lo chhuak nasa hle a , a sagging hle bawk . He vun hi a pangngai aia elastic zawk a ni a, a inzawm chuan a hmunah a snap leh ang (hyperextensible skin).
• Hriatna lama harsatna nei .
• A awm loh emaw, hnute tissue tlem lutuk emaw.
• Nipple awm lohna emaw, a lo thanglian loh emaw.
• Hlawhtlin lohna . Chumi awmzia chu naute chu a thau chho zel a, a thang zawi zawi tihna a ni.

Engvangin nge hetiang dinhmun hi a lo awm? A chhan engte nge ni?

Barber-Say syndrome thlen chhan ber chu gene `TWIST2` a genetic change emaw mutation emaw a ni. He gene hian kan taksaa ruh cell te thanna atana inrawlh protein a siam chhuak a. Chuvangin, he gene-ah hian chhiatna a awm chuan he natna lan chhuah dan (symptoms characteristic) hi a lo lang thin.

He natna hi a tlem em avangin rochun dan tur zirchianna hi a tlem hle. A tam zâwk chuan, naupangin nu leh pa zînga pakhat aṭanga mutated gene a rochun chuan, naupang chuan natna a vei theihna a sang zâwk tih hmuh a ni . Hei hi autosomal dominant pattern an ti a .

Mahse, a châng chuan autosomal recessive pattern-ah rochun theih a ni . Chumi awmzia chu naupang chuan nu leh pa pahnih atanga mutated gene an rochun chauhvin he natna hi a nei dawn tihna a ni . Thil dang dangah chuan naupang pakhatin TWIST2 gene -a mutation thar (de novo mutation) avang hian he natna hi a nei thei a, chhungkaw zingah tumahin he natna hi an vei ngai lo.

Engtin nge hei hi hriat chhuah a nih?

I naute doctor chuan taksa a enfiah hmasa ang . He enfiahna an neih chhung hian an natna chhinchhiahna chiang tak tak an zawng ang a, chu chu hmai inthlak danglam, sam sei lutuk, leh vun rawng a ni. I biological family history pawh an zawt bawk ang.

Diagnosis finfiah nan doctor chuan genetic test a ti ang . Hei hian naute thisen sample tlemte lak a, genetic changes zawn a huam a ni. A bik takin, a hmaa kan sawi tawh `TWIST2` gene-ah hian mutation an zawng a ni.

Enkawlnate chu engte nge ni?

Dik tak chuan Barber-Say syndrome hi damdawi chiang tak a la awm lo . Mahse, naute natna lan chhuah dan azirin naute tin tan enkawlna tur ruahmanna bik siam theih a ni.I naute naupang enkawltu doctor chuan specialist team nen hetiang ti turin an thawk ho ang. Chûng zîngah chuan:

• Mit lam (Ophthalmologist ) : Doctor, mit leh mit leh mit kaihhnawih natna hrang hrang hriatchhuah leh enkawltu a ni.
• Dermatologist : Doctor, vun, sam, leh nail nena inzawm natna enkawltu a ni.
• Genetic counselor : Healthcare professional, genetic natna rochun emaw, i fa hnena kai theihna emaw hriatthiamna puitu.

Enkawlna dang angin naute taksaa pianphung dik lo siam\hat nan plastic surgery chi hrang hrang tih theih a ni. Mi tam tak chuan heng operation hma leh hnuah hian danglamna lian tak an hmu thin. Heng surgery hrang hrangte hi a hnuaia mi ang hian a ni thei:

• Ha enkawlnaah hian hmai, hmui emaw, hmui emaw (maxillofacial surgery) a tel a ni.
• Facial plastic surgery, hmuiah thil dah (malar implants) ang chi te.
• Mitmeng zai (`blepharoplasty` emaw `tarsorrhaphy` emaw) tih a ni.
• Hnar siam thar (rhinoplasty) tih a ni.
• hmui zai `(cheiloplasty)` tih a ni.
• Jaw siamthatna (orthognathic surgery) tih a ni.
• Chin surgery (genioplasty) tih a ni.
• Breast augmentation (hei hi puitlin hnua tih thin a ni).

Enkawlna dangte chu:

• Sam sei lutuk (hypertrichosis) tan laser hmanga enkawl a ni .
• Mit lama harsatna dangte chu mittui siamna hmanga enkawl theih a ni a, mittui tlakna hmanrua, leh antibiotics hmanga enkawl theih a ni .

Hei hi ven dan tur a awm em?

Barber-Say syndrome hi genetic condition a nih avangin ven theih a ni lo . Mahse, fa i beisei a nih chuan i doctor nen genetic testing chungchang sawipui a pawimawh . Genetic testing hian i fate hnena gene thenkhat i pek chhuah theihna tur i hriatthiam theih nan a pui thei che a ni.

Barber Say Syndrome vei naupang dam rei zawng chu engzat nge ni ang?

Hei hi hriat tur phurrit lian tak angin lang mah se, Barber-Se syndrome vei dam rei zawng chu thil pangngai a ni . I naute hian taksa lama harsatna, piansualna ang chi, a hmaa kan sawi tawh ang khan nei mah se, he natna hian a chhungril taksa peng emaw, finna emaw a nghawng lo tlangpui . Chuvang chuan nausen motor thanlenna leh tawngkam than dan pangngaiin a lo thanglian tur a ni.

Mahse, a tawpah chuan i naute hriselna rei tak chu a natna lan chhuah dan leh a nasat danah a innghat ang. Chuvangin, i naute dam rei zawng bik chungchang hi doctor hnenah zawt la a tha ber.

I doctor zawh tur zawhna pawimawh

Hetiang hunah hian i rilruah zawhna tam tak a awm hi thil pangngai a ni. I naute doctor hnenah hetiang zawhnate hi zawt la, i ngaihtuahnate i chinfel theih nan:

• Ka nauteah hian engtiang chiahin nge hetiang dinhmun hi a tlem?
• Ka naute symptoms hi engtiang chiahin nge a nasat?
• Ka naute hian eng ang enkawlna nge a mamawh?
• Ka naute hian eng ang surgery nge a mamawh ang?
• Ka naute dam rei zawng chu engzat nge ni ang?

A vawi khatna atana nu leh pa nih chu thil hlauhawm tak a ni thei. I naute hian genetic condition hmuh tur awm lo tak a nei tih hriat chu a harsa zawk thei. I naute hian Barber-Sey syndrome a nei a nih chuan, natna hlauhawm tak nei naupang chhungkaw tanpuitu pawla tel chu ngaihtuah rawh . Chutiang pawl chu i zawhnate chhânna zawng tûr leh i naute dinhmun chungchânga beiseina neih theihna kawng ṭha tak a ni thei a ni.

A tawp berah chuan take-home message

Kan sawiho tawh hian Barber Say Syndrome chungchangah hian hriatthiamna engemaw chen a pe che u kan beisei. I naute hian taksa lama inthlâk danglamna engemaw zat nei mah se, a hriat theihna chu a pangngai tûr a ni tih hre reng ang che . Chumi awmzia chu i fa chu nun pangngai, rah chhuah nei thei tûr a ni tihna a ni .

A pawimawh ber chu hlauthawng lo la, damdawi lam thurawn mumal tak la la, i naute chu a mamawh hmangaihna leh enkawlna pe rawh. Zawhna i neih chuan i doctor-te nen inhawng takin sawi rawh. I tanpui turin an inpeih reng a ni.

He thu hi i tan a tangkai ngei kan beisei!

` Barber Say Syndrome, genetic diseases, natna hmuh tur awm lo, naupang hriselna, hmai piansual, vun natna, genetic counselling