Cutar da ke da dangantaka tare da kawai Around 100 Sananne Cases
Ciwo na Seckel shine nau'i mai mahimmanci , wanda ke ma'ana cewa jaririn farawa kaɗan kuma baiyi girma ba bayan haihuwa. Yayinda mutane masu fama da ciwo na Seckel za su kasance daidai a sikelin, za su sami matsanancin karami. Rashin jinkiri na tunanin tunani ma na kowa ne.
Duk da kalubale na kalubale na jiki da na tunanin mutum wanda ke fama da ciwo na Seckel, an san mutane da yawa da suka wuce shekaru 50.
Sanadin cututtuka na Seckel
Ciwo na Seckel shine gadon da aka gada da nasaba da maye gurbin kwayoyin halitta akan daya daga cikin chromosomes uku. An yi la'akari sosai da ƙananan fiye da 100 lokuta da aka ruwaito tun 1960. Yaran da yawa da aka gano da ciwo na Seckel sun haife su ga iyaye wadanda suke da alaka da juna (masu kama da juna), kamar su 'yan uwan zumunta ko' yan uwan.
Ciwo na Seckel shine ƙwayar cuta, wanda yana nufin cewa yana faruwa ne kawai a lokacin da yaron ya gaji irin wannan nau'in mahaifa daga kowane iyaye. Idan yaron ya karbi nau'in al'ada da kuma nau'in mahaukaci, yaron zai kasance mai ciwo daga ciwo amma ba zai nuna alamun bayyanar ba.
Idan iyaye biyu suna da irin wannan maye gurbin chromosomal don ciwo na Seckel, hadarin su na ɗauke da jariri tare da ciwon Seckel shine kashi 25 cikin 100, yayin da hadarin samun mai ɗauka shine kashi 50.
Halaye na Ciwon Seckel Syndrome
Raunin Seckel yana fuskantar rashin ciwo mai saurin ciwon tayi da nauyin haihuwa.
Bayan haihuwar, jaririn zai fuskanci rawar ci gaba da ƙananan kashi wanda ya haifar da gajeren lokaci amma kuma mai dacewa (kamar yadda yake tsayayya da dwarfism na ɗan gajeren lokaci, ko achondroplasia). Mutane da ke fama da ciwo na Seckel suna da siffofi na jiki da na ci gaba, ciki har da:
- Ƙananan ƙananan size da nauyi a lokacin haihuwar (matsakaicin 3.3 fam)
- Ƙananan ƙananan, girman jiki
- Ƙananan ƙananan girman kai (microcephaly)
- Hanya mai yatsa kamar hanci
- Nada fuska
- Kunnuwa mara kyau
- Ƙananan ƙananan jaw (micrognathia)
- Race tunanin tunanin tunani, sau da yawa mai tsanani tare da IQ kasa da 50
Sauran bayyanar cututtuka na iya haɗawa da idanu masu ban mamaki, babban tsararraki, ɓacin hakori, da sauran nakasa. Cutar jini kamar su anemia (ƙananan jinin jini), pancytopenia (ƙananan jini), ko cutar cutar sankarar myeloid mai zurfi (irin cutar ciwon jini) ana iya gani.
A wasu lokuta, gwaji a cikin maza zai kasa sauka zuwa cikin kullun, yayin da mata zasu iya samun magidanci mai girma. Bugu da ƙari, mutanen da ke fama da ciwon Seckel na iya samun gashin jiki mai zurfi da kuma zurfi ɗaya, zurfi a cikin hannayensu (wanda aka sani da simian crease).
Sanin asali na Seckel Ciwo
Sakamakon ganewar ciwo na Seckel yana dogara ne kawai akan bayyanar cututtukan jiki. Hakanan X da sauran kayan aiki na tunanin ( MRI , CT scan ) ana iya buƙatar don gane shi daga wasu yanayi masu kama da juna. A halin yanzu babu wani gwaji ko gwajin kwayar gwajin musamman game da ciwo na Seckel. A wasu lokuta, ba a iya gano ganewar asali ba har sai yaron ya tsufa kuma halayyar bayyanar cututtuka sun bayyana.
Jiyya da Gudanarwa na Seckel Ciwo
Yin maganin ciwo na Seckel yana mayar da hankali ga duk wani matsalar lafiya wanda zai iya fitowa, musamman ma da jini da nakasa. An kalubalanci mutane da iyalansu da ƙalubalantar ƙalubalen da za a ba su goyon bayan zamantakewa da shawarwari.
Sources:
> Al-Dosari, M .; Shaheen, R .; Colak, D. et al. "Rubutun CENPJ ya haifar da ciwo na Seckel." J Med Genet . 2010; 47: 411-4.
> Hennekam, R .; Allanson, J .; da kuma Krantz, I. (2011) "Matsanancin raunin gajeren lokaci." Gorlin's Syndromes na Shugaban da Neck . Oxford, Ingila: Oxford University Press: 440-80.