Chirwere cheAarskog

Aarskog syndrome chirwere chisingawanzoitika chinokanganisa kureba kwemunhu, mhasuru, marangwanda, sikarudzi, uye chitarisiko. Inogona kupfuudzwa kuburikidza nemhuri (nhaka).

Aarskog syndrome chirwere chegene chinosanganisirwa neX chromosome. Inobata zvakanyanya varume, asi vakadzi vanogona kunge vane fomu yakapfava. Mamiriro acho anokonzerwa neshanduko (shanduko) mune geni inonzi "faciogenital dysplasia" (FGD1).

Zviratidzo zveichi chiitiko zvinosanganisira:

• Bheri bhatani rinonamira kunze
• Kuputika mumupendero kana purotamu
• Kunonoka kukura pabonde
• Kunonoka mazino
• Yakadzika palpebral inotsvedza kumeso (palpebral slant ndiyo inotungamira iyo slant kubva kwekunze kuenda mukati mekona yeziso)
• Bvudzi rine "chirikadzi yepamusoro"
• Zvinyoro chipfuva chakanyura
• Hunyoro kusvika pakati nepakati matambudziko epfungwa
• Kureba kusvika pakati nepakati pakakwirira izvo zvingasave pachena kusvikira mwana aine makore 1 kusvika matatu
• Yakasarudzika chikamu chepakati chechiso
• Yakatenderedzwa kumeso
• Scrotum yakakomberedza iyo nhengo (shawl scrotum)
• Mapfupi zvigunwe nezvigunwe zvine hunyoro webhu
• Chikamu chimwe chete muchanza cheruoko
• Diki, rakafara maoko uye tsoka neminwe mipfupi uye yakakombama-mune yechishanu munwe
• Mhuno diki nemhino dzakatenderedzwa kumberi
• Machende asina kuburuka (asingadiwe)
• Chikamu chepamusoro chezeve chakapetwa pamusoro zvishoma
• Wide groove pamusoro pemuromo wepamusoro, paza pazasi pemuromo wezasi
• Wide-akaisa maziso ane droopy eyelids

Iyi bvunzo inogona kuitwa:

• Genetic kuyedza shanduko mu FGD1 geni
• X-ray

Kufambisa mazino kunogona kuitwa kurapa zvimwe zvisina kujairika kumeso maficha anogona kunge aine munhu ane Aarskog syndrome.

Izvi zvinotevera zviwanikwa zvinogona kupa rumwe ruzivo nezve Aarskog syndrome:

• National Sangano reRare Dambudziko - rarediseases.org/rare-diseases/aarskog-syndrome
• NIH / NLM Genetics Kumba Referensi - ghr.nlm.nih.gov/condition/aarskog-scott-syndrome

Vamwe vanhu vanogona kunge vaine kunonoka kwepfungwa, asi vana vane chirwere ichi vanowanzo kuve nehunyanzvi hwekudyidzana. Vamwe varume vanogona kunge vaine matambudziko nekubereka.

Aya matambudziko anogona kuitika:

• Shanduko muuropi
• Zvakaoma kukura mugore rekutanga rehupenyu
• Mazino akanyatsoenderana
• Kufenda
• Machende asina kudzikiswa

Fonera wako mupi wezvehutano kana mwana wako akanonoka kukura kana ukaona chero zviratidzo zveAarskog syndrome. Tsvaga zano rekuberekwa kana uine nhoroondo yemhuri yeAarskog syndrome. Bata nyanzvi yezvibereko kana mupi wako achifunga kuti iwe kana mwana wako muve neAarskog syndrome.

Kuongorora kwegeneti kunogona kuwanikwa kune vanhu vane nhoroondo yemhuri yemamiriro acho kana kuchinjika kunozivikanwa kwerudzi rwunozvikonzera.

Chirwere cheAarskog; Chirwere cheAarskog-Scott; AAS; Faciodigitogenital chirwere; Gaciogenital dysplasia

• Chiso
• Pectus excavatum

D'Cunha Burkardt D, Graham JM. Saizi yemuviri saizi uye chiyero. Mune: Pyeritz RE, Korf BR, Grody WW, eds. Misimboti yaEmery naRimoin uye Maitiro Ekurapa Genetics uye Genomics: Clinical Misimboti uye Maapplication. 7th ed. Philadelphia, PA: Elsevier; 2019: chits.

Jones KL, Jones MC, Del Campo M. Wakaenzana mupfupi, kumeso ± genital. Muna: Jones KL, Jones MC, Del Campo M, eds. Maitiro aSmith Anozivikanwa Ekushanduka kweMunhu. 7th ed. Philadelphia, PA: Elsevier Saunders; 2013: chap.