I-Disord of Disord with Only Around 100 Cases Knowns
I-Seckel syndrome yinto ezuze ilifa lezinto ezinzulu , oku kuthetha ukuba usana luqala kakhulu kwaye lukwazi ukukhula ngokuqhelekileyo emva kokuzalwa. Nangona abantu abaneSeckel syndrome baya kubalwa ngokulinganayo, baya kuba nobukhulu beentloko ezincinane. Ukuzilahlwa kwengqondo kuqhelekile.
Nangona kuninzi lweengxaki zomzimba nezengqondo ezijongene nomntu oneSeckel syndrome, abaninzi baye baziwa ukuba baphila kakuhle kwiminyaka engama-50.
Izizathu zeSeckel Syndrome
I-Seckel syndrome ifumana i-disorder disorder edibaniswa nokuguquka kwemfuyo kwenye yeekromosomes ezintathu. Kuthathwa njengento engabonakaliyo ngeengxaki ezingaphezu kwe-100 ezichazwe ukususela ngo-1960. Abantwana abaninzi abafumene ukuba neSeckel syndrome bazalwa ngabazali abathandana ngokusondelene (abafana), njengabazala babo okanye abazalwana babo.
I-Seckel syndrome yintlupheko yesifo se-genetic, oku kuthetha ukuba kwenzeka kuphela xa umntwana ezuza i-gene engafaniyo kumzali ngamnye. Ukuba umntwana ufumana umfuziselo oqhelekileyo kunye nomzimba ongaqhelekanga, umntwana uya kuba ngumthwali we-syndrome kodwa akayi kubonisa iimpawu.
Ukuba ngaba bobabini abazali banokuguqulwa kwe-chromosomal efanayo kwiSeckel syndrome, umngcipheko wokuba nomntwana kunye neSeckel syndrome ngama-25 ekhulwini, ngelixa umngcipheko wokuba nomthwali we-50%.
Iinkcukacha zeSeckel Syndrome
I-Seckel syndrome ibonakala ngokuphuhliswa ngokungapheliyo komntwana kunye nokuzala okuphantsi.
Emva kokuzalwa, umntwana uya kuba nokukhula okucothayo kunye nokukhula kwemfuyo okubangelwa kwisigqi esifutshane kodwa esilinganiselweyo (ngokuchasene nexesha elincinci, okanye i-achondroplasia). Abantu abaneSeckel syndrome baneempawu ezibonakalayo zomzimba kunye nophuhliso, kuquka:
- Ubuncinci obukhulu kunye nobunzima bokuzalwa (umyinge wama-3.3 iipounds)
- Eyona ncinane kakhulu, isiqingatha
- Ubuncinane bentloko yentloko (microcephaly)
- Ukutshatyalaliswa kwemilenze yepumlo
- Ubuso obuhle
- Iindlebe ezingalunganga
- Umhlathi omncinci (encinci)
- Ukulibaziseka kwengqondo, kaninzi kunzima nge-IQ ngaphantsi kwama-50
Ezinye iimpawu zingabandakanya amehlo aqhelekanga, i-palate ephakamileyo, i-doth malformation, kunye nezinye izifo eziphosakeleyo. Iziphazamiso zegazi ezifana ne-anemia (amangqamuzana egazi abomvu aphantsi), i- pancytopenia (ezingenayo iiseli zegazi), okanye i -leukemia ekhangeleleneyo (uhlobo lomdlavuza wegazi) ngokuqhelekileyo lubonakala.
Kwezinye iimeko, ii-testes kumadoda ziyahluleka ukuhla kwi-scrotum, ngoxa abafazi banakho i-clitoris engavumelekanga. Ukongezelela, abantu abaneSeckel syndrome banokuba neenwele ezigqithiseleyo zomzimba kunye neyodwa, i-deep crease kwiintendelezo zezandla zabo (ezaziwa ngokuba yi-simian crease).
Ukuxilongwa kweSeckel Syndrome
Ukuxilongwa kweSeckel syndrome kusekelwe phantse kuphela kwiimpawu zomzimba. I-ray ray kunye nezinye izixhobo zokucinga (i- MRI , CT scan ) ingafuneka ukuba zihluke kwezinye iimeko ezifanayo. Okwangoku akukho bhobho okanye uvavanyo lwemizimba oluthe ngqo kwiSeckel syndrome. Kwezinye iimeko, ukuxilongwa okucacileyo akunakwenziwa kuze kube yilapho umntwana ekhula kwaye iimpawu ezibonakalayo zibonakala.
Unyango kunye noLawulo lweSeckel Syndrome
Unyango lweSeckel syndrome lugxile kuyo nayiphi na ingxaki yezokwelapha ezinokuvela, ngakumbi ingxaki yegazi kunye nokukhubazeka kwezakhiwo. Abantu abajongene nemingeni kunye neentsapho zabo baya kufuna ukuba banike inkxaso efanelekileyo yoluntu kunye neenkonzo zokucebisa.
Imithombo:
> Al-Dosari, M .; Shaheen, R .; Colak, D. et al. "Intshukumo ye-CENPJ inguquko yenza i-Seckel syndrome." J Med Genet . 2010; 47: 411-4.
> Hennekam, R .; Allanson, J; kunye no-Krantz, I. (2011) "Imilinganiselo emfutshane ye-syndromes." I-Gorlin Syndromes yeNtloko kunye neNeck . Oxford, eNgilani: I-Oxford University Press: 440-80.