Carpenter syndrome chikamu cheboka rezvirwere zvema genetic rinozivikanwa se acrocephalopolysyndactyly (ACSP). Matambudziko eAACPS anoratidzwa nenyaya nehenya, zvigunwe, uye zvigunwe. Carpenter syndrome dzimwe nguva kunonzi ACPS type II.
Zviratidzo nezviratidzo zveAvezi Syndrome
Zvimwe zvezviratidzo zvakajairika zveCarpenter syndrome zvinosanganisira polydactyl chidimbu kana kuvapo kweimwe minwe kana zvigunwe.
Zvimwe zviratidzo zvinowanzobatanidza zvinosanganisira kubhurwa pakati peminwe uye nepamusoro pepamusoro we musoro, inozivikanwawo se acrocephaly. Vamwe vanhu vane njere dzisina njere, asi vamwe vane Carpenter syndrome vari mukati mehutano hwakanaka hwehuchenjeri. Zvimwe zviratidzo zveCarpenter syndrome zvinogona kusanganisira:
- Kuvhara kwepakutanga (fusion) yezvibatanidza zvakasimba (cranial sutures) yedehenya, inonzi craniosynostosis. Izvi zvinokonzera dhehenya kuti rikure zvisina kuchena uye musoro unogona kuonekwa sefupi uye wakafara (brachycephaly)
- Zviso zvakatarisa zvakadai sezvishoma-pasi, zvisinganzwisisiki nzeve, bhiriji rakanyorova rakasvibirira, mhino yakasimudzirwa, yakadzika-mazai emafupa (palpebral fissures), maduku asina kusimba pasi uye / kana pasi pasi.
- Muchidimbu neminwe uye zvigunwe (brachydactyly) uye zvakasungirirwa kana zvakagadzirwa neminwe kana zvigunwe (syndactyly).
Mukuwedzera, vamwe vanhu vane Carpenter syndrome vangave:
- kuberekwa (ikozvino pakuberekwa) kukanganisa kwemwoyo mune imwe chetatu kune imwe hafu yevanhu
- mimba hernia
- miedzo isina kufanirwa mune varume
- short stature
- unyoro kusvika pakuenzanisa kutadza kwepfungwa
Kuwanda kweCarpenter Syndrome
MuUnited States, kune anenge 300 chete mazita anozivikanwa eCarpenter syndrome. iyo chirwere chinoshamisa kwazvo; kungova 1 mumamiriyoni 1 ekuberekwa kunovhiringidzwa.
Icho chirwere chinokonzera kuzvidzora.
Izvi zvinoreva kuti vabereki vose vanofanira kunge vakawana mazamu kuitira kuti vapfuure chirwere mumwana wavo. Kana vabereki vaviri vane majena aya ane mwana asingaratidze zviratidzo zveCarpenter syndrome, mwana iyeye achiri kutakura zvemajeni uye anogona kupfuudza kana mumwe wavo anewo.
Iyo Carpenter Syndrome Inozivikanwa
Sezvo Carpenter syndrome iri chirwere chinokonzerwa nehutachiona, kacheche inoberekwa nayo. Kuongororwa kunobva pane zviratidzo izvo mwana ane, zvakadai sekuonekwa kwehenya, chiso, zvigunwe, nezvigunwe. Hapana kuongororwa ropa kana X-ray inodiwa; Carpenter syndrome inowanzoongororwa chete kuburikidza nokuongorora kwepanyama.
Kurapa
Kurapa kweCarpenter syndrome kunobva pane zviratidzo izvo munhu anezvo uye kuoma kwemamiriro acho. Kuvhiya kunogona kudikanwa kana urema hwemoyo hunopisa huripo. Kuvhiya kunogonawo kushandiswa kugadzirisa craniosynostosis nekuparadzanisa kusakanganiswa kwemafupa akaremara kuti asare kukura kwemusoro. Izvi zvinowanzoitwa muzvikamu kubvira pakutanga.
Kugadzirisa kuparadzana kweminwe uye zvigunwe, kana zvichibvira, kunogona kupa chimiro chakanaka asi kwete kunyanya kuvandudza basa; vanhu vazhinji vane Carpenter syndrome vanoedza kushandisa maoko avo nemaitiro akaenzana ekudengenyeka kunyange mushure mekuvhiyiwa.
Kurapa kwepanyama, basa, uye kutaura kunogona kubatsira munhu ane Carpenter syndrome kusvika paanogona kukura.
Sources:
US National Library of Medicine. "Carpenter Syndrome." 2007
Kleppe, S. "Carpenter Syndrome". National Organisation for Rare Disorders , 2015.