Izizathu zeSigxina esifutshane
Ukutshatyalaliswa komzimba kuthetha ukuba umntu unesigxina esifutshane ngenxa yesimo semfuyo okanye unyango, ngokuphakama komntu omdala onama-4, ii-intshi ezili-10 okanye ngaphantsi. Kuqikelelwa ukuba kukho iindidi ezingama-300 zentsholongwane. Abantu abanezi meko ngokuqhelekileyo baneengqondo eziqhelekileyo kunye nobuchule, nangona ezinye iimeko zingabangela ezinye iingxaki zempilo.
Amagama aqhelekileyo atyunjwe ngabantu abaneli meko "banomfutshane" okanye "umntu omncinci" kunokuba bantwini.
I-midget ibonwa njengento evuthayo ngabantu abaninzi.
Iintlobo zeNtshontsho
Kukho ezimbini iindidi eziphambili zentsholongwane:
- Ukutshatyalaliswa okungafaniyo: Oku kuthetha ukuba umntu unamalungu amanqanaba omgangatho omgangatho womzimba, njengentloko kunye / okanye i-trunk, kunye neminye imizuzu emifutshane yomzimba, njengemilenze kunye neengalo. Uhlobo oluqhelekileyo lwentsholongwane engabonakaliyo (kunye nohlobo oluqhelekileyo lwezinto ezincinci, ngokubanzi) luyi-achondroplasia, apho umntu enomzimba oqhelekileyo kunye neenyawo ezincinane.
- Ubuncwane obuthileyo : Oku kuthetha ukuba umntu uncinci-kune-average. Ukunyuka kwe-hormone ukusilela , ukusabalalisa , kunye ne- Seckel syndrome ziintlobo zonke ezinobunzima.
Iindidi zentsholongwane zinezizathu ezahlukileyo kunye neempawu zomzimba, nangona zonke ezichaphazelekayo kwezi meko zifutshane. Uninzi lweemeko ziyimfuza kwaye zikhoyo ngexesha lokuzalwa.
Achondroplasia-Olona hlobo oluqhelekileyo lweNtshontsho
I-Achondroplasia yenza amaphesenti angama-75 azo zonke iimeko zokusweleka komzimba kwaye ivela kwi-15,000 ukuya kwi-40,000 yokuzalwa.
Nge-achondroplasia, kukho ingxaki ngemfuza echaza umzimba ukuba uguqulwe i- cartilage kwithambo ngelixa likhula (ngokukodwa kumathambo amathambo). Iimpawu zomzimba zolu hlobo lwesantya ziquka:
- Umzimba ophezulu ungowokulinganisa ubukhulu kodwa iingalo nemilenze zibonakala zifutshane.
- Inhloko ivame ukuphakama ngaphezu komyinge.
- Ibunzi livelele.
- Iminwe imifutshane kakhulu kunomyinge.
- Abantu abadala bangakha i-arch ye-back back okanye iqubude imilenze .
- Ukuphakama komyinge kumntu omdala kungaphezulu kweenyawo ezine.
Iingxaki zobunzima
Uninzi lwabantu abanamava aguqukayo (utshintsho kwizityalo ezithile) eziphazamisa uphuhliso oluqhelekileyo lwe-cartilage namathambo emzimbeni. Ekubeni iingalo nemilenze zinamathambo ende kakhulu, naluphi na ukuphazamiseka ekuphuhliseni amathambo aqhelekileyo kukhokelela kwimigqomo emfutshane-ekhokelela kwisithuba esifutshane.
Utshintsho lwezofuzo olubangela ukutshatyalaliswa lunokudlulela kumzali ukuya kumntwana (ifa) okanye kwenzeke xa utshintsho (ukuguqulwa kofuzo) lwenzeka kwiqanda okanye kwi-cell cell ngaphambi kokuba ukhulelwe. Abantu abambalwa abancinci banokuba nomntwana ongeyena umntwana, ngelixa abazali abangabalingana ababelethayo banokuzala umntwana onomculo we-achondroplasia.
Ezinye iintlobo ezingezizo zofuzo ezibangelwa yintsholongwane zingabangelwa ukulahleka kwehommone yokukhula okanye ziyakwenzeka ukuba umntwana okanye umntwana womntwana akafumani izondlo ezifunekayo ekukhuleni nasekuphuculeni kakuhle. Ezi ziko zivame ukunyangwa ngutitshala.
Ukufumana iSifo
Uninzi lweziganeko ze-achondroplasia ziyafumaneka phambi kokuzalwa (ngokusebenzisa ukusetyenziswa kwe-ultrasound kwizigaba ezilandelayo zokukhulelwa).
I-ultrasounds ingabonisa iincinci ezingaphezulu kwezingaphezulu kunye nemilenze, kunye nokuba intloko yesana inkulu kuneyomyinge.
Kukho iintlobo zezinto ezincinci ezinokuthi zifunyanwe ngaphambili nangaphambi kokukhulelwa kwaye kukho nezinye iintlobo ezingenakufunyanwa kuze kube yilapho kuzalwa.
Akukho naluphi unyango olunezinto ezibangelwa ziintsholongwane zemvelo . Ukuthintela okanye ukunyanga ukuxhalabisa ngempilo yinkqubo yodwa yokusebenza eyenziwa ngeli xesha kubantu abancinci kunye neentsapho zabo.
Ukuba umntwana akafumani ukuxilongwa kobunzima, unokuba nje kwicala elifutshane lokukhula okuqhelekileyo.
> Imithombo:
> Duker AL. Ukutshatyalaliswa. KidsHealth evela kwiNemours. https://kidshealth.org/en/parents/dwarfism.html.
> Ubunzima. MedlinePlus. https://medlineplus.gov/dwarfism.html.