Ingaba ukukhula komntwana wakho kuyingxaki? Masithethe ngemeko engaqhelekanga yeRobinow Syndrome.

Ngamanye amaxesha, izinto ezincinci malunga nophuhliso lwabantwana bethu ziyasikhathaza, akunjalo? Abanye abantwana bakhula ngendlela eyahlukileyo kancinci, okanye amalungu abo awaphuhli ngendlela esilindele ngayo. Namhlanje siza kuthetha ngemeko yemfuza engaqhelekanga kakhulu. Oku kubizwa ngokuba yiRobinow Syndrome, okanye ``Robinow Syndrome'' ngesiNgesi. Musa ukoyika xa usiva oku, kuba oku akwenzeki kubantu abaninzi. Nangona kunjalo, kubalulekile ukuba wonke umntu akuqonde oku.

Yintoni iRobinow Syndrome?

Ngamafutshane, iRobinow Syndrome sisifo esingaqhelekanga semfuza esichaphazela uphuhliso lwamathambo omntwana kunye namanye amalungu omzimba. Umzekelo, iingalo, imilenze, kunye neminwe yabanye abantwana inokuba mfutshane kunesiqhelo. Basenokuba nomqolo ogobileyo (okwabizwa ngokuba yi-scoliosis), i-low rib cage, iimpawu zobuso, iingxaki zesini, kwaye ngamanye amaxesha ukulibaziseka kokukhula.

Oogqirha basebenzisa amanye amagama aliqela kule meko. Kulungile ukubazi nabo:

• `I-Acral dysostosis eneengxaki zobuso nezesini` (oko kukuthi, iingxaki zobuso nezesini ezineengxaki emathanjeni amalungu omzimba).
• `Isifo sobuso be-Fetal` (sibizwa njalo kuba ubuso bomntwana bufana nobuso bomntwana ongekazalwa esibelekweni).
• I-Mesomelic dwarfism- yi-small genitalia syndrome (ukufinyezwa kwamalungu aphakathi kunye namalungu amancinci).
• `URobinow dwarfism`.
• `Isifo sikaRobinow-Silverman` okanye `Isifo sikaRobinow-Silverman-Smith`.

Nangona kukho amagama amaninzi ala magama, onke abhekisela kwimeko yempilo efanayo.

Ngaba kukho iintlobo ezimbini zeRobinow Syndrome?

Ewe, zimbini iintlobo eziphambili zeRobinow Syndrome. Nazi:

1. Uhlobo lwe-Autosomal recessive: Oku kusenokuvakala kuyinkimbinkimbi, kodwa masithi nje, ukuze olu hlobo lwenzeke, umntwana kufuneka azuze ukwahluka kwemfuza okufanelekileyo kubazali bobabini.

2. Uhlobo olulawulayo lwe-Autosomal: Kolu hlobo, isifo singenzeka nokuba utshintsho oluhambelanayo lwe-genetic lufunyenwe kumzali omnye, okanye nokuba utshintsho olutsha lwe-genetic lwenzeka ngokungacwangciswanga.

Ezi ntlobo zimbini zahlukile omnye komnye:

• Ngokwenguqu yemfuza ebangela esi sifo.
• Kuxhomekeke kwindlela umntu ayifumana ngayo le sifo.
• Ngokweempawu ezibonisiweyo.
• Kuxhomekeke ekubeni isifo sinzima kangakanani na .

Inqabile kangakanani iRobinow Syndrome?

Esi sisifo esingaqhelekanga ngokwenene. Ngokweengxelo zonyango, uhlobo lwe-autosomal recessive luye lwabikwa kwiimeko ezingaphantsi kwama-200 kwihlabathi liphela. Uhlobo lwe-autosomal dominant luye lwabikwa nakwiintsapho ezimalunga nama-50 kuphela. Ngoko ke ungacinga ukuba oku kunqabile kangakanani.

Kutheni iRobinow Syndrome isenzeka?

Eyona sizathu siphambili soku kukuguquka kwezakhi zofuzo . Yonke into emzimbeni wethu ilawulwa zizakhi zofuzo. Ngoko ke, ukuba kukho naluphi na utshintsho okanye isiphene kwezi zakhi zofuzo, ezi meko ziyenzeka.

• I-Autosomal recessive Robin syndrome ibangelwa kukuguquka kwejini ebizwa ngokuba yiROR2. Izazinzulu zikholelwa ukuba iproteni eveliswa yile jini yeROR2 inceda amathambo ethu, intliziyo, kunye namalungu esini akhule. Ngoko ke xa kukho ingxaki ngale jini, iproteni ayiveli kakuhle.
• I-Autosomal dominant Robino syndrome ibangelwa kukuguquka kwezakhi zofuzo ezahlukeneyo (i-FZD2, i-WNT5A, i-DVL1, i-DVL3). Ezi zakhi zofuzo zikwanegalelo ekuvelisweni kweeproteni ezinxulumene nophuhliso lwasekuqaleni kombungu. Nangona kunjalo, imisebenzi yazo ayikaqondwa ngokupheleleyo.

Kodwa into engaqhelekanga kukuba, ngamanye amaxesha le Robinow Syndrome inokwenzeka nokuba akukho tshintsho lwemfuza olufunyenweyo. Izazinzulu azikayazi kakuhle ukuba kutheni oku kusenzeka.

I-Robinow Syndrome ifunyanwa njani njengelifa?

Sele sithethe ngeendlela ezimbini eziphambili zokufumana oku njengelifa. Masijonge oko ngeenkcukacha ezithe vetshe.

• Njengesifo esibangelwa kukunganyamezelani: Oku kwenzeka xa umntwana efumana iikopi ezimbini ze-gene engaqhelekanga - kubazali bobabini. Into ebalulekileyo apha kukuba bobabini abazali banokuba ngabathwali be-gene, kodwa basenokungabi nazimpawu . Kufana nokuba bane-gene emizimbeni yabo njengemfihlo. Ngoko ke, ukuba ababini abathwali banomntwana, kukho ithuba elingama-25% lokuba umntwana abe ne-autosomal recessive Robin syndrome. Oku kuthetha ukuba ayinguye wonke umntwana oza kuzalwa enale meko, kodwa kukho umngcipheko.
• Ingxaki elawulayo: Oku kwenzeka xa umntwana efumana ilifa le-gene engaqhelekanga kumzali omnye kuphela. Okanye, ngamanye amaxesha, utshintsho olutsha lwe-genetic (uguquko oluzenzekelayo) lunokwenzeka ngokungacwangciswanga, oko kukuthi, ngaphandle kwesizathu esicacileyo, ngelixa umntwana esakhula esibelekweni. Kunzima ukutsho ngqo ukuba kutheni utshintsho olunjalo olungacwangciswanga lwenzeka.

Ngoko ke, ngamanye amaxesha umntu unokuba ngumthwali wale nguqu yemfuza engazi nokuba yintoni na. Yiyo loo nto ngamanye amaxesha umntwana enokuba nale meko nokuba akukho mntu usapho lwakhe onayo.

Zithini iimpawu zomntwana oneRobinow Syndrome?

Iimpawu zoku zinokwahluka kakhulu kumntu nomntu. Kuxhomekeke kuhlobo lwesifo kunye nobunzima baso. Njengoko besitshilo ngaphambili, uhlobo lwe-autosomal recessive ngokuqhelekileyo lunokubonisa iimpawu ezingaphezulu kancinci.

Izinto ezingaqhelekanga ezibonwa ebusweni:

Abantwana abanale meko baneempawu ezithile zobuso. Ngamanye amaxesha zibizwa ngokuba "zii-fetal facies," kuba zifana neempawu zobuso zomntwana ongekazalwa esibelekweni. Ezi mpawu ziquka:

• Ibunzi elibanzi okanye eliphumayo.
• Iindlebe zinokuthi zibekwe ngendlela engaqhelekanga, umzekelo, ukuba zisezantsi entloko okanye zijijeke kancinci.
• Intloko enkulu kunesiqhelo (`(Macrocephaly)`) .
• Umngxuma onzulu (i-philtrum) osembindini womlomo ongaphezulu mde kwaye unzulu.
• Amehlo avele ngaphandle, avuleke kakhulu.
• Impumlo emfutshane, ejonge phezulu.
• Isilevu okanye isilevu esincinci.
• Umlomo omile okwesixantathu.
• Ibhulorho ebanzi okanye etshonileyo yempumlo (ephezulu kwempumlo).

Iimpawu ezibonwa kumathambo:

Olu lolona tshintsho luphambili lubonwa emathanjeni:

• I-scoliosis (i-scoliosis) .
• Ukulibaziseka kokukhula kunye nobude obufutshane.
• Iingxaki zamazinyo. Umzekelo, amazinyo axineneyo, ukukhula kakhulu kweentsini, okanye incakuba eqhekekileyo.
• Iimbambo zisenokuba zinamathelene, okanye ezinye iimbambo zisenokuba zingekho.
• Ukufinyezwa kwamathambo ezingalweni nasemilenzeni.
• Ukufinyezwa kweminwe (izandla neenyawo) (`(Brachydactyly)`) .

Ezinye iimpawu:

Ukongeza koku, ezinye iimpawu zinokubonwa:

• Ukulibaziseka kokukhula . Kodwa eyona nto ibalulekileyo ekufuneka ndiyithethe apha kukuba abantwana abaninzi abaneRobinow Syndrome abakhubazeki engqondweni kamva ebomini. Oku kuthetha ukuba izakhono zabo zokufunda zisenokuba zezoqhelekileyo.
• Iingxaki zezintso okanye zentliziyo.
• Ukukhula okungafanelekanga kwamalungu esini. Ngamanye amaxesha amalungu esini anokubekwa ngendlela eyenza kube nzima ukubona ngokucacileyo ukuba umntwana yindoda okanye ngumfazi.

Yintoni i-Osteosclerotic Robinow Syndrome?

Kwinani elincinci labantu abane-autosomal dominant Robinow syndrome (ebangelwa ngokukodwa kukuguquka kwezakhi zofuzo ze-DVL1), amathambo abo anokuba makhulu okanye aqine kunesiqhelo . Oogqirha babiza le meko ngokuthi yi-Osteosclerotic Robinow Syndrome.

Ifunyanwa njani iRobinow Syndrome?

Le meko idla ngokuchongwa ngokuhlola iimpawu zomzimba zomntwana. Xa ugqirha emhlola ngononophelo umntwana, uya kujonga ezi mpawu zikhankanyiweyo apha ngasentla.

"Owu, gqirha, ubuso bomntwana wam bubonakala buhlukile kancinci kwabanye abantwana... Amalungu akhe omzimba abonakala emafutshane kancinci..." Abanye abazali baqala ngokuza nezinto ezinje.

Nangona kunjalo, ukuqinisekisa ukuxilongwa, kufuneka uvavanyo olukhethekileyo lwemfuza (`(Uvavanyo lwemfuza yeMolecular)`) ukuze kubonwe ukuba kukho utshintsho kwimfuza . Oku kwenziwa kwilabhoratri ngokuvavanya:

• Isampuli yegazi
• Isampuli yamathe
• Iswabhu yesihlathi
• Ngamanye amaxesha inxalenye encinci yolusu

Ukuba kukho umntu kusapho lwakho oneRobinow Syndrome...

Kwimeko enjalo, oogqirha banokucebisa ukuba umntwana ongekazalwa avavanywe esi sifo ngexesha lokukhulelwa.

• Uvavanyo olubizwa ngokuba yi-"Chorionic villus sampling" lungenziwa ngokuthatha isampuli encinci kwi-placenta.
• Okanye, uvavanyo lwemfuza (`(i-genetic amniocentesis)`) lunokwenziwa, olubandakanya ukuthatha isampuli yolwelo lwe-amniotic olujikeleze umntwana.

Ngenxa yokuba olu vavanyo lunzima kancinci, lwenziwa kuphela ngokucetyiswa ngugqirha.

Unyangwa njani umntwana oneRobinow Syndrome?

Unyango lwale meko luyahluka kumntu nomntu . Luxhomekeke kwiimpawu zomntwana. Rhoqo, iqela leengcali ezivela kwiinkalo ezahlukeneyo liya kunyanga umntwana. Eli qela lingaquka:

• Ingcali yentliziyo – ukuba unengxaki yentliziyo.
• Ugqirha wamazinyo, ugqirha wamazinyo, okanye ugqirha wotyando lomlomo – kwiingxaki zamazinyo nemihlathi.
• Ingcali ye-Endocrinologist – Ngeengxaki zehomoni ezinxulumene nophuhliso lwesini.
• Ugqirha wabantwana – Jonga impilo yomntwana ngokubanzi.
• Ingcali yonyango lomzimba – iphucula intshukumo kunye nokusebenza komzimba.
• Ugqirha wamathambo – kwiingxaki zamathambo namalungu.

Oku kulandelayo kungenziwa njengonyango:

• Faka iibhandishi okanye ii-cast ezikhethekileyo ukuxhasa amathambo achaphazelekileyo.
• Sebenzisa izixhobo ezikhethekileyo zokuncedisa amazinyo (iibraces kunye nezinye izixhobo zomlomo) ukulungisa iingxaki zamazinyo.
• Nika unyango lwehomoni ukukhuthaza ukukhula okanye uphuhliso lwesini.
• Yenza imithambo ekhethekileyo yokuqinisa umzimba nokuphucula ukusebenza kwawo.
• Utyando lokulungisa iingxaki kumathambo okanye amalungu esini.

Ukongeza kuzo zonke ezi zinto, oogqirha bakwacebisa abantu abaneRobinow Syndrome kunye neentsapho zabo ukuba bafune iingcebiso ngemfuza . Oku kunokubanceda baqonde ngcono imeko, indlela ezuzwa ngayo, kunye nezinto ekufuneka baziqwalasele xa benabantwana kwixesha elizayo.

Ngaba iRobinow Syndrome ingathintelwa?

Enyanisweni, ngaphandle kokuba izibini zenze uvavanyo lwemfuza ngaphambi kokuba kufakwe umntwana , akukho ndlela yokuthintela utshintsho lwemfuza olubangela iRobinow Syndrome. Ukuba wena okanye umntu osapho lwakho unale meko, eyona nto ingcono onokuyenza kukuthetha nogqirha okanye nomcebisi wemfuza. Banokukunika iingcebiso ngamathuba okudlulisela esi sifo kwizizukulwana ezizayo.

Liyintoni ikamva lomntu oneRobinow Syndrome?

Ingqikelelo yomntu onesi sifo iyahluka kumntu nomntu . Ixhomekeke kwiimpawu kunye nobunzima bazo. Iingxaki ezingaqhelekanga zentliziyo nezintso zinokunciphisa ixesha lokuphila. Nangona kunjalo, uninzi lwabantu luphila ubomi obuqhelekileyo ngonyango olufanelekileyo kunye nenkxaso.

Ukuba umntwana wam uneRobinow Syndrome, yintoni enye endifanele ndiyibuze kugqirha?

Ukuba ufunyaniswe ukuba unale meko kumntwana wakho, ungabuza oogqirha le mibuzo. Le mibuzo iya kukunceda kakhulu:

• "Gqirha, loluphi uhlobo lweRobinow Syndrome umntwana wam analo? " (Oko kukuthi, ingaba yi-autosomal recessive okanye yi-dominant).
• " Ngaba kufuneka sicinge ngotyando lokulungisa iingxaki emathanjeni okanye kwizitho zangasese? "
• "Ngaba umntwana wam uza kuba nokulibaziseka ekukhuleni ?"
• "Ingaba unengxaki yentliziyo okanye yezintso ?"
• " Luhlobo luni lweengcali esifanele sizibone? Sifanele sizibone kangaphi ?"
• " Zeziphi iimpawu ekufuneka ndizixhalabele kakhulu? Ngaba ndifanele ndiqhagamshelane nawe ukuba ndibona into enjalo?"
• " Ngaba le meko iya kuyinciphisa ixesha lobomi bomntwana wam? "
• "Ngaba kukho amaqela enkxaso anokusinceda siphile nale meko?"
• "Ngaba ucebisa iingcebiso ngemfuza ?"
• "Ingaba licebo elihle na ukufumana uvavanyo lwemfuza kusapho lwethu lonke ?"

Gcina le mibuzo engqondweni. Ukuyibuza kuya kukunceda ufumane unyango olungcono kunye nenkxaso kuwe nakumntwana wakho.

Okokugqibela, izinto ekufuneka uzikhumbule (Umyalezo Wokuya Ekhaya)

I-Robinow Syndrome sisifo esingaqhelekanga kakhulu esibangelwa yimfuza. Sinokubangela iingxaki zamathambo, iimpawu zobuso ezahlukeneyo, iingxaki zesini, kunye nezinye iingxaki. Ungakhathazeki , oku akwenzeki kubantu abaninzi.

Nangona kunjalo, ukuba ucinga ukuba umntwana wakho unezinye zezi mpawu, bonana nogqirha ofanelekileyo ngoko nangoko . Iingcali zingalungisa ezinye zeengxaki zamathambo kunye nezitho zangasese kwaye zincede umntwana wakho asebenze ngcono. Ngonyango olufanelekileyo, unyango lomzimba, kunye nothando nenkxaso yosapho, aba bantwana banokufikelela kwinqanaba labo elipheleleyo.

Isifo sikaRobino , izifo zemfuza, uphuhliso lomntwana, ukukhubazeka kwamathambo, iimpawu zobuso, ingcebiso yemfuza, izifo ezingaqhelekanga