Acrodysostosis

Acrodysostosis cuta ce mai saurin gaske wacce ke kasancewa yayin haihuwa (haifuwa). Yana haifar da matsaloli tare da ƙasusuwan hannaye, ƙafa, da hanci, da nakasa ilimi.

Yawancin mutane da ke fama da cutar acrodysostosis ba su da tarihin iyali na cutar. Koyaya, wasu lokuta ana samun yanayin daga iyaye zuwa yaro. Iyaye masu cutar suna da damar 1 cikin 2 na aika cutar ga passinga childrenansu.

Akwai haɗarin haɗari kaɗan tare da iyayen da suka tsufa.

Kwayar cutar ta wannan cuta ta hada da:

• Yawan cututtukan kunne na tsakiya
• Matsalolin girma, gajerun hannuwa da kafafu
• Matsalar ji
• Rashin hankali
• Jiki ba ya amsawa ga wasu ƙwayoyin cuta, kodayake matakan hormone daidai ne
• Siffofin fuskoki daban

Mai ba da sabis na kiwon lafiya na iya gano asali wannan yanayin tare da gwajin jiki. Wannan na iya nuna ɗayan masu zuwa:

• Ci gaban kasusuwa
• Nakasar nakasa a hannu da kafa
• Jinkiri a girma
• Matsaloli game da fata, al'aura, hakora, da kwarangwal
• Armsananan hannu da ƙafa tare da ƙananan hannaye da ƙafa
• Gajeren kai, an auna shi gaba da baya
• Gajeren gajere
• Ananan, mai juye hanci da gada mai ɗauke da madaidaiciya
• Bambancin fasali na fuska (gajeren hanci, buɗe baki, muƙamuƙin da ya fita waje)
• Shugaban da ba na al'ada ba
• Idanu masu fadi, wani lokacin tare da karin fata a kusurwar ido

A watannin farko na rayuwa, x-ray na iya nuna isassun ƙwayoyin calcium, waɗanda ake kira stippling, a cikin ƙasusuwa (musamman hanci). Antsananan yara na iya samun:

• Gajere gajerun yatsu da yatsun kafa
• Girman kasusuwa a hannu da ƙafa
• Gajerun kasusuwa
• Raguwa da kasusuwa na kusa da wuyan hannu

An danganta kwayoyin biyu da wannan yanayin, kuma za a iya yin gwajin kwayar halitta.

Jiyya ya dogara da alamun.

Hormones, kamar su hormone girma, ana iya ba su. Za a iya yin aikin tiyata don magance matsalolin ƙashi.

Wadannan rukuni zasu iya samar da karin bayani game da acrodysostosis:

• Nationalungiyar forasa don Rare Rashin Lafiya - rarediseases.org/rare-diseases/acrodysostosis
• NIH Cibiyar Bayanai na Halitta da Rare Bayanai - rarediseases.info.nih.gov/diseases/5724/acrodysostosis

Matsaloli sun dogara da matakin kasusuwa da nakasa ilimi. Gaba ɗaya, mutane sunyi kyau.

Acrodysostosis na iya haifar da:

• Illar karatu
• Amosanin gabbai
• Ciwon ramin rami na carpal
• Rangearfafa yanayin motsi a cikin kashin baya, guiwar hannu, da hannaye

Kira mai ba da yaron idan alamun acrodystosis sun ci gaba. Tabbatar ana auna tsayi da nauyin yaro yayin kowane ziyarar kula da yara. Mai ba da sabis ɗin na iya tura ka zuwa:

• Kwararren masanin kwayar halitta don cikakken kimantawa da karatun chromosome
• Masanin ilimin likitancin yara don kula da matsalolin ci gaban ɗanka

Arkless-Graham; Acrodysplasia; Maroteaux-Malamut

• Gwajin kasusuwa na gaba

Jones KL, Jones MC, Del Campo M. Sauran ƙwayar cuta. A cikin: Jones KL, Jones MC, Del Campo M, eds. Siffofin da Za'a Iya Ganewa na Smith na Malan Adam. 7th ed. Philadelphia, PA: Elsevier Saunders; 2013: 560-593.

Organizationungiyar forasa don Rare Rashin Lafiya yanar gizo. Acrodysostosis. rarediseases.org/rare-diseases/acrodysostosis. An shiga Fabrairu 1, 2021.

Silve C, Clauser E, Linglart A. Acrodysostosis. Motar Metab Res. 2012; 44 (10): 749-758. PMID: 22815067 pubmed.ncbi.nlm.nih.gov/22815067/.