Umbazi we-Carpenter syndrome uyingxenye yezinkinga zezifo ezithinta izakhi zofuzo ezibizwa nge-acrocephalopolysyndactyly (ACSP). Izinkinga ze-ACPS zibhekene nezinkinga nge-skull, iminwe, nezinzwane. I-Carpenter syndrome ngezinye izikhathi ibizwa ngokuthi yi-ACPS uhlobo II.
Izimpawu Nezimpawu Ze-Carpenter Syndrome
Ezinye zezibonakaliso ezivame kakhulu ze-Carpenter syndrome zihlanganisa izinombolo ze-polydactyl noma ukutholakala kweminwe noma iminwe eyengeziwe.
Ezinye izibonakaliso ezivamile zibandakanya ukubhula phakathi kweminwe kanye nenhloko ekhonjiwe yekhanda, eyaziwa ngokuthi i-acrocephaly. Abanye abantu banezinkinga ezihlakaniphile, kodwa abanye abane-Carpenter syndrome bahle kakhulu ngaphakathi kwamakhono ajwayelekile engqondo. Ezinye izimpawu ze-Carpenter syndrome zingabandakanya:
- Ukuvalwa kokuqala (ukuhlanganiswa) kwamajoyini ama-fibrous (cranial sutures) we-skull, okuthiwa i-craniosynostosis. Lokhu kubangela ukuthi i-skull ikhule ngendlela engavamile futhi ikhanda lingabonakala lincane futhi libanzi (i-brachycephaly)
- Izici zobuso ezifana nesethi ephansi, izindlebe ezingenakulungiswa, ibhuloho eliphansi eliphansi, impumu ephakanyisiwe, amaphuphu amahlombe aphansi (ama-palpebral fissures), umhlathi omncane ophansi ongaphansi noma ophansi.
- Iminwe emifushane eminwe nezinzwane (brachydactyly) neminwe yewebhu noma ifontiwe noma iminwe eqinile (syndactyly).
Ngaphezu kwalokho, abanye abantu abane-Carpenter syndrome bangase babe nalokhu:
- ukubeletha (okwamanje ekuzalweni) ukukhubazeka kwenhliziyo cishe kwesithathu kuya kwengxenye yabantu
- i-hernia yesisu
- izivivinyo ezingenakunqunywa kubantu abesilisa
- isiqu esifushane
- ubumnene ukulinganisa ukuphuza kwengqondo
Ukuqhathaniswa komdwebi we-Carpenter Syndrome
E-United States, kunamacala angaba ngu-300 kuphela eyaziwayo we-Carpenter syndrome. kuyisifo esingavamile kakhulu; Ukuzalwa okungu-1 kwezigidi ezingu-1 kuphela kuthinteka.
Kuyinto isifo esiyingozi ngokweqile.
Lokhu kusho ukuthi bobabili abazali kumele babe nomthelela ezakhiweni zofuzo ukuze badlulisele lesi sifo enganeni yabo. Uma abazali ababili abanezakhi zofuzo benomntwana ongabonakali izimpawu ze-Carpenter syndrome, lowo mntwana usengumthwali wezakhi zofuzo futhi angadlulisela uma umlingani wakhe enakho.
Indlela I-Carpenter Syndrome Eyaziwa Ngayo
Njengoba i-Carpenter syndrome iyisifo sezofuzo, usana luzalwa nalo. Ukuxilongwa kusekelwe ezinkomba ingane enakho, njengokubonakala kwe-skull, ubuso, iminwe, nezinzwane. Akukho ukuhlolwa kwegazi noma i-X-ray edingekayo; I-carpenter syndrome ngokuvamile ihlolwe kuphela ngokusebenzisa ukuhlolwa ngokomzimba.
Ukwelapha
Ukwelashwa kwe-Carpenter syndrome kuncike ezimpawu umuntu aziphethe kanye nobukhulu besimo. Ukuhlinzwa kungahle kudingeke uma kukhona ukukhubazeka kwenhliziyo esongela ukuphila. Ukuhlinzwa kungasetshenziselwa ukulungisa i-craniosynostosis ngokuhlukanisa amathambo e-skull angavumelekile ukuvumela ukukhula kwekhanda. Lokhu kuvame ukuqhutshwa ngezigaba kusukela ebuntwaneni.
Ukuhlukaniswa kokuhlinzwa kweminwe nezinzwane, uma kunokwenzeka, kungase kube nokubukeka okujwayelekile kodwa kungabi ngcono umsebenzi; abantu abaningi abane-Carpenter syndrome balwela ukuzisebenzisa ngezandla ezijwayelekile zokungaxubanisi ngisho nangemva kokuhlinzwa.
Ukwelashwa ngokomzimba, emsebenzini, nokukhuluma kungasiza umuntu nge-Carpenter syndrome afinyelele ekuthuthukiseni kwakhe okungcono.
Imithombo:
Ilabhulali Kazwelonke Yezokwelapha yase-US. "Umbazi we-Carpenter Syndrome." 2007
UKleppe, S. "Umbazi we-Carpenter Syndrome". Inhlangano Kazwelonke Yezinkinga Ezinzima , 2015.