I fa chu midang aiin a tawi zawkin a lang em? He hypochondroplasia chungchang hi i zir dawn teh ang!

Nu leh pate u, a châng chuan in fate chu kum inang naupang dangte aiin a tawi deuh niin in inhria em? A nih loh leh, i fa chu a lo puitlin hunah pawh beisei angin a sang lo niin i hria em? Hetiang thil hi rilruah a lo thlen hian tlem a hlauhthawn leh lungkham deuh hi thil pangngai a ni. Vawiin hian hetiang dinhmun thlen thei, mahse sawi tam vak loh thil kan sawi dawn a ni.

Okay, he hypochondroplasia hi eng nge ni?

A awlsam zawngin sawi ila, hypochondroplasia hi kan ruhro, chu chu ruhro (skeletal system) hmasawnna tichhe thei natna a ni. Doctor te chuan he natna hi skeletal dysplasia an ti a . A bik takin, cartilage tih hming pu thil pakhat a nghawng a ni. Cartilage hi kan ruhte hi kan che velin a inhnaih loh nan a venghimtu, connective tissue nem tak a ni tih hre reng ang che. Kan beng leh hnar chhunga awm ang maiin. Hetiang dinhmunah hian thil thleng chu kut leh ke ruh sei tak takah chuan ruh (cartilage) chu ruhah a chang tha lo a ni. Hei hi ossification kan ti a ni. Chuvangin, hetiang hi a thleng dik loh chuan ke ruhte chu a tawi deuh a, chuvang chuan ‘short-limbed dwarfism’ thlentu condition an ti a ni.

Hetiang dinhmun hi engtiang chiahin nge a awm?

Mi engzat nge hypochondroplasia vei tih chiang taka sawi a harsa hle. Mahse, zirchianna hrang hrangah chuan achondroplasia , a nasat zawkna ang bawkin a awm thei tih a tarlang. Khawvel puma nau piang thar 15,000 zinga pakhat leh 40,000 zinga pakhat inkar a ni nia chhut a ni. Chumi awmzia chu a awm vak lo tihna a ni a, mahse a awm lo bawk.

Hei hi eng symptoms nge ni?

Hypochondroplasia hriat theihna tura pui thei taksa chhinchhiahna engemaw zat a awm. Mahse, heng chhinchhiahnate hi mi zawng zawng tan a inang lo va, mi tin a inang lo thei hle. A chhinchhiahna thenkhat chu hetiang hi a ni:

• Short stature: Kum inang naupang dang aiin a tawi zawk.
• Lu lian deuh: Taksa dang nena khaikhin chuan lu hi a lian deuhin a lang thei.
• Kut leh ke tawi: Kut chunglam, a bik takin kekawrte chu tawi takin a lang.
• Kut leh ke zau tak: Kutphah leh kephah chu a zau deuh mai thei.
• Elbow-a kut chu a kim thei lo: Elbow movement hi a tlem deuh thei.
• Bowed legs: Ke chu khup thlengin pawn lam hawiin a lang thei.
• Lower back curvature (lordosis): Hnunglam hnuai lam chu chhung lam hawiin a inher lutuk thei.

A tlangpuiin, he san zawng hloh hi naupang a naupan lai te, kum hnih leh kum thum inkar leh sikul an tan tirh atang hian a lang chhuak thin. Hypochondroplasia vei mipa puitling pakhat san zawng chu centimetre 138 atanga 165 (inches 54-65) vel a ni. Hmeichhia tan chuan centimetre 128 atanga 151 (50-59 inches) vel a ni.

Kut leh ke ruh natna hi dam chhung zawngin a awm thei a, a bik takin exercise lak zawhah a awm thei.

Hei hi a tlem hle nachungin, hypochondroplasia vei zinga 10% aia tlem chuan naupan lai atanga puitling thlengin zirlai harsatna leh rilru lama harsatna tenau tak tak an tawk thei a ni. Mahse, a tam zawkah chuan he dinhmun hian finna a nghawng lo tih hriat reng a pawimawh .

Engtikah nge heng symptoms te hi a lo lan?

Vawi tam tak chu, naupang chu a naupan lai chuan he sei tawi hi a langsar vak lo . Naupang chu a lo upa deuh a, growth development milestone a paltlang chuan a lang fo thin a, chu chu naupang dang angin an sang lo tihna a ni a, emaw, an naupan lai atanga ‘growth spurt’ rang tak an neih tawh loh lai pawhin a lang fo thin.

Hei hi eng nge a chhan?

Hypochondroplasia thlentu ber chu genetic mutation a ni . A tam zawkah chuan FGFR3 gene an tih gene inthlak danglamna avanga lo awm a ni. He FGFR3 gene hian kan ruhte thanlenna leh enkawlna atana mamawh protein siamchhuahna kawngah a pui a ni. Hei hi ossification process atan a pawimawh hle a, chu chu cartilage chu ruh-ah a chantir a ni. Chuvangin, he FGFR3 gene-ah hian inthlak danglamna a awm chuan chu protein chu a thawk nasa lutuk a, ruhte chu a lo thang lian leh tha thei lo.

Hetiang dinhmun hi thlah kal zelah a kai darh thei a ni. Hei hi autosomal dominant pattern an ti a . A awlsam zawngin sawi ila, nu leh pa pakhatin he genetic change hi a neih chuan an fain a rochun theihna chance 50% a awm a ni. Mahse, a tam zawkah chuan FGFR3 gene-a heng inthlak danglamna te hi random takin (de novo) a thleng thin . Chumi awmzia chu gene change hi a vawi khatna atan a thleng thei tihna a ni a, chhungkaw zingah tumahin he natna hi an la nei lo a nih pawhin a thleng thei tihna a ni.

A tlem berah chuan FGFR3 gene-ah hian inthlak danglamna awm lovin hypochondroplasia a awm thei a ni. Hetiang hunah hian gene dang la hriat loh inthlak danglamna avanga lo awm a ni thei niin an ngai.

He dinhmun hian tute nge a nghawng?

Hypochondroplasia hi naupang tu pawh a nghawng thei a ni . Sawi tawh ang khan, genetic change hi nu leh pa atanga rochun a ni thei a, a nih loh leh random takin a thleng thei bawk. Heng genetic changes te hi nuin naupai lai a thil tih avanga lo awm a ni lo. Rin loh takin an thleng thin.

Engtin nge hei hi i hriat chian?

Doctor chuan naute a pian hnuah hypochondroplasia a nei tih a hmuchhuak a. Hei hi naupai laiin ultrasound scan an tih hian a hriat theih vang a niHetiang dinhmun chhinchhiahna hi a langsar lo fo. Mahse, nuin hypochondroplasia a neih a, a thlentu genetic mutation hriat a nih chuan naupai laiin CVS (chorionic villus sampling) test emaw amniocentesis test emaw hmangin a natna hi hriat theih a ni.

Naute a pian hnuah doctor chuan naute taksa enfiahna a nei ang. Tin, genetic testing an nei thei bawk a, chu chuan natna lan chhuahna gene dik tak chu an hmuchhuak thei bawk.

Hei hi finfiah nan eng test nge tih thin?

Doctor chuan hypochondroplasia a awm tih finfiah nan test eng emaw zat neih a rawt thei a ni. Chung zingah chuan:

• X-ray: Ruh hmasawnna kal zel dan tur hriat nan.
• Genetic testing: Symptoms thlentu genetic variation hriatchhuah nan.
• MRI (magnetic resonance imaging) emaw CT scan (computed tomography scan) emaw test: Spinal curve leh nerve compression te enfiah thin ang che.

Hei hi eng enkawlna nge ni?

Hypochondroplasia enkawlna hian ruh than dan pangngai lo ang chi, harsatna thlen thei symptoms control a tum a ni. Enkawl dan pawh mi zawng zawng tan a inang lo va, mi tin a inang lo. Enkawlna atana i tih theihte chu hetiang hi a ni:

• Spinal surgery: A châng chuan, hnungzang hnuai lam nerve pinched a awm a, chu chu lumbar stenosis , laminectomy leh decompression ang chi surgery te pawh tih theih a ni.
• Physical therapy: Mobility leh range of motion tihchangtlun.
• Growth hormone treatment: Hei hi naupang thenkhat chu an sang zawka an than theih nan pek theih a ni.
• Ruh natna damdawi: Ruh natna tihziaawmna damdawi.

Chhungkaw thenkhat leh naupang hypochondroplasia vei te chuan support group zawm hi a \angkai hle thei a ni . Fate dinhmun chungchanga thil tawn ang chiah lo nei tawh midangte nena inbiak pawhna tha tak a ni. Heng pawlte hian hnathawhna, rualbanlote dikna chanvo, leh nu leh pa nih chungchangah thu pawimawh tak tak leh zirtirna an pe thei bawk.

Ka fa hian hypochondroplasia a vei a nih chuan eng nge ka beisei ang?

Hypochondroplasia hi dam chhung zawnga natna a ni a , tihdam kim theih a ni lo . Mahse, naupang dam chhung a nghawng lo , nun pangngaiin an hmang thei bawk.

I fate natna lan chhuah dan chu a naupan laiin a lang fo thin (chutiang ‘growth spurt’ of height rang tak chu an nei lo tihna a ni). Hei hian an kum rualpui midang aiin an tawi zawk tihna a ni.

Exercise i tih zawhah i khup, i elbow leh i ke ruh te ang chi hmunah natna leh natna tenau te i neih hi thil pangngai a ni. Puitlingah phei chuan ruh natna leh natna hi hun kal zelah a awm thei.

I fa doctor chuan i fate hmasawnna chu a enfiah fo ang a, a natna lan chhuah dan tur enkawl dan tur a rawt bawk ang.

Engtin nge ka fain hypochondroplasia a vei theihna tur chu ka tihziaawm theih ang?

Hypochondroplasia hi random genetic change avanga lo awm a nih avangin, nupa tuak khatin preimplantation genetic testing ang chi thil an neih loh chuan he natna hi ven theih dan a awm tak tak lo.

Mahse, naupai laiin zu i in emaw, chemical i inhnim emaw a nih chuan, thlahtu (genetic condition) nei fa neih theihna a sang thei hle. Hei hi ngaihdan dik lo awm fo a ni.

Nau neih i tum a nih chuan i doctor nen hian genetic condition nei fa neih theihna tur hlauhawm chungchang sawipui a tha ber.

Engtik hunah nge doctor ka hmuh ang?

I fa chu hypochondroplasia a vei tih hmuhchhuah a nih chuan, leh a natna lan chhuah dan a nasat em avangin naupangin nitin hna a thawk thei lo a nih chuan, emaw, na tak tak a awm a nih chuan, a bik takin kut leh keah te, doctor pan ngei ngei tur a ni.

Tin, i fa chu hypochondroplasia a vei tih hmuhchhuah a ni lo a, mahse an kum a zirin hmasawnna milestone a tlachham a nih chuan – entirnan, ‘growth spurt’ a neih loh chuan – i doctor hnenah hriattir rawh.

Doctor hnenah eng zawhna nge ka zawh ang?

Doctor hnenah zawhna hetiang hi i zawt thei ang:

• Hypochondroplasia nei fa dang neih theihna hlauhawmah ka awm em?
• Ka fa hian enkawlna a mamawh em?
• Ka fa hian operation a mamawh em?
• Enkawlna hian side effect a nei em?
• Support group i recommend thei ang em?

Hypochondroplasia leh Achondroplasia hi eng nge an danglamna?

Hypochondroplasia leh achondroplasia te hi FGFR3 gene atanga lo chhuak genetic condition an ni vek a . An pahnih hian mi ruh thanna leh san zawng a nghawng a ni. Mahse, hypochondroplasia hi achondroplasia chi khat a ni zawk . Chumi awmzia chu a symptoms te chu chutiang chuan a na lo tihna a ni.

Hypochondroplasia vei naupangte hian an dinhmun avang hian nitin naupan lai thil tih an hloh lo tlangpui. Naupang tam zawk hi an thiante aiin an tawi zawk chauh a, nunna atana hlauhawmna lian tham an nei lo. Mahse, sikul an kal hunah chuan naupang dangte tihduhdahna an tawk thei a ni. Chuvangin, anmahni thlawp a pawimawh a, a tul chuan mental health counselor nen inbiakna neih a pawimawh bawk . Hypochondroplasia vei naupang nei chhungkua chuan midangte nena inzawmna siam theihna tur leh an thil tawn atanga zir theihna tur support group an zawng thin hi thil awmze nei tak a ni.

Fa i beisei a, genetic condition nei fa i neih theihna tur hlauhawmna hriatthiam i duh chuan doctor hmu la, genetic test chungchang sawipui rawh.

Chuti a nih chuan, he thawnthu atang hian eng thil nge kan in lama kan hruai haw tur pawimawh ber?

Hypochondroplasia hi genetic condition a ni a, naupang san zawng a nghawng a, mahse dam chhung zawng a ni lo. Naupang chu nun pangngaiin a nung thei a ni.

• Hei hi random genetic change avanga lo awm a ni fo thin a, chuvangin nu leh pa anga in thil tih vang niin ngai suh.
• Symptoms a na lo hle a, a bulpui ber chu short stature a ni. Intelligence hi a nghawng lo tlangpui.
• Damdawi lam thurawn mumal tak leh a tul chuan enkawl dan tur dik tak hmanga symptoms control theih a ni.
• I fa hmangaih leh thlawp a pawimawh hle a, a tul chuan support group atanga tanpuina dil a pawimawh hle bawk. Chu chuan mahni inrintawkna tha tak nei turin a pui ang.
• Hemi chungchanga zawhna dang i neih chuan i chhungkaw doctor nen inbiakna neih hreh suh . Kaihhruaina dik tak an pe ang che.

` Hypochondroplasia, naupang san zawng, sei tawi, genetic natna, ruh thanna, FGFR3 gene, cartilage