I-carpenter syndrome yinxalenye yeqela leengxaki zokuzalwa ezibizwa ngokuba yi-acrocephalopolysyndactyly (ACSP). Iziphazamiso ze-ACPS zibonakaliswa yimicimbi enekrele, iminwe, neenzwane. Ngezinye iinkqubo ukubizwa nge-Carpenter syndrome kuthiwa yi-ACPS uhlobo II.
Iimpawu kunye nezibonakaliso ze-Carpenter Syndrome
Ezinye zezona zibonakaliso eziqhelekileyo ze-Carpenter syndrome ziquka amanani e-polydactyl okanye ubukho beminwe okanye iminwe eyongezelelweyo.
Ezinye iimpawu eziqhelekileyo zibandakanya i-webbing phakathi kweminwe kunye nephezulu ephakamileyo yentloko, eyaziwayo njenge-acrocephaly. Abanye abantu abanengqondo engaphelelekanga, kodwa abanye abane-Carpenter syndrome bahlala kwiindawo eziqhelekileyo zobuchule beengqondo. Ezinye iimpawu ze-Carpenter syndrome zingaquka:
- Ukuvalwa kwangaphambili (ukuhlanganiswa) kweengxube ze-fibrous (i-cranial sutures) yeckull, ebizwa ngokuba yi-craniosynostosis. Oku kubangela ukuba ikhakhazi likhule ngokungavamile kwaye intloko ibonakale imfutshane kwaye ibanzi (i-brachycephaly)
- Iinkalo zobuso ezifana nokusezantsi, iindlebe ezingenakulungileyo, ibhuloho yamanzi ephangaleleyo, impumlo ephakanyisiweyo, iintlobo zeepilisi ezinqabileyo (i-palpebral fissures), incinci encinane engaphantsi kwakhula kunye / okanye ephantsi.
- Iminwe emfutshane kunye neenzwane (brachydactyly) kunye neminwe okanye iminwe okanye ifonti (i-syndactyly).
Ukongeza, abanye abantu abane-Sypenter syndrome bangaba:
- Ukuzalwa komntwana (okwangoku ekuzalweni) iintsilelo zentliziyo kwisithuba sesithathu kwisithandathu somntu
- hernia esiswini
- iimvavanyo ezingabonakali kumadoda
- lifutshane
- ukukhawuleza kwengqondo
Ubuninzi beCpenter Syndrome
E-United States, kukho ama-300 kuphela awaziwa ngamagciwane e-Carpenter syndrome. sisifo esiqhelekileyo; Ukuzalwa oku-1 kwezigidi ezi-1 kuchaphazelekayo.
Isifo esiphezulu se-autosomal.
Oku kuthetha ukuba bobabini abazali kufuneka bachaphazele iigeni ukuze baphumelele eso sifo kumntwana. Ukuba ngaba ngabazali ababini abanezifo zengqungquthela abanomntwana ongabonakali iimpawu ze-Carpenter syndrome, loo mntwana usengumphathiswa weejeni kwaye unokuyidlulisela xa iqabane lakhe linalo.
Indlela I-Carpenter Syndrome efunyanwa ngayo
Ekubeni i-Carpenter syndrome yintlupheko yesifo somzimba, usana luzalwa nalo. Ukuxilongwa kusekelwe kwiimpawu ezingumntwana, ezifana nokubonakala kwekhayi, ubuso, iminwe kunye neenzwane. Akukho vavanyo lwegazi okanye i-X-ray efunekayo; I-sypentrome ye-Carpenter ixilongwa kuphela ngenxa yokuhlolwa komzimba.
Unyango
Unyango lwe-Carpenter syndrome incike kwiimpawu umntu azinayo kunye nobunzima besimo. Ukuphelelwa kwintsholongwane kunokufuneka ukuba kukho isifo senhliziyo esisongela ubomi. Ukuhlinzwa kungasetyenziselwa ukulungisa i-craniosynostosis ngokuhlukanisa amathambo angenangqondo ngokungaqhelekanga ukuvumela ukukhula kwentloko. Oku kufuthi kwenziwa kwinqanaba ukususela ebusaneni.
Ukuhlukana kokutshitshiswa kweminwe kunye neenzwane, ukuba kunokwenzeka, kunokubonelela ngokubonakalayo ngokuqhelekileyo kodwa kungekhona ukuphucula umsebenzi; Abantu abaninzi abane-Carpenter syndrome bazama ukuzisebenzisa ngezandla eziqhelekileyo zokuxhatshazwa koko emva kokuhlinzwa.
Ulwaphulo olusisigxina, usebenze, kunye nentetho lunokunceda umntu ngeCpenter syndrome afinyelele kwisakhono sakhe esiphambili sokuphuhlisa.
Imithombo:
ILayibrari yeSizwe ka-US yamayeza. "I-Sypentrome yeSpenter." 2007
U-Kleppe, S. "I-Carpenter Syndrome". I-National Organisation for Disorder Disorders , 2015.