Ciwon Aarskog

Ciwon Aarskog cuta ce mai saurin gaske wacce ke shafar tsayin mutum, tsokoki, kwarangwal, al'aura, da kuma bayyanarsa. Ana iya yada shi ta wurin dangi (wadanda suka gada).

Ciwon Aarskog cuta ce ta kwayar halitta wanda ke da alaƙa da X chromosome. Yana shafar akasarin maza, amma mata na iya samun sauƙin yanayi. Yanayin ya samo asali ne daga canje-canje (maye gurbi) a cikin kwayar halittar da ake kira "faciogenital dysplasia" (FGD1).

Kwayar cututtukan wannan yanayin sun hada da:

• Maballin ciki wanda ke fita waje
• Buga cikin duri ko majina
• Jinkirta balaga
• Jinkirin hakora
• Arfin ƙashin ƙugu a ƙasa zuwa idanu (mai laƙan ƙwallon ƙafa shi ne shugaban ƙanƙan daga waje zuwa kusurwar ido)
• Layin gashi tare da "kololuwar bazawara"
• Kirji mai rauni a hankali
• Matsaloli masu sauƙi zuwa matsakaici
• Matsakaici zuwa matsakaiciya tsayi wanda bazai iya bayyana ba har sai yaro ya cika shekara 1 zuwa 3
• Yanayin tsakiyar fuska mara kyau
• Fuskar fuska
• Scrotum yana kewaye da azzakari (shawl scrotum)
• Gajerun yatsu da yatsu tare da sassauƙan yanar gizo
• Creirƙira guda ɗaya a tafin hannu
• Smallananan, hannaye da kafafu masu fa'ida tare da gajerun yatsu da mai lankwasa-a yatsa na biyar
• Noseananan hanci tare da hancin goshi gaba
• Gwajin da bai sauko ba (wanda ba a ba shi ba)
• Portionangaren sama na kunne ya lankwashe kaɗan
• Wuri mai tsayi sama da leben sama, kuɓewa ƙasa da leben ƙasan
• Wuraren da aka zazzaro tare da zubda idanu

Ana iya yin waɗannan gwaje-gwajen:

• Gwajin kwayoyin halitta don maye gurbi a cikin FGD1 kwayar halitta
• X-haskoki

Motsa hakora za'a iya yin shi don magance wasu sifofin fuska mara kyau wanda mai cutar Aarskog na iya kasancewa.

Wadannan albarkatu na iya ba da ƙarin bayani game da cutar Aarskog:

• Nationalungiyar forasa don Rare Rashin Lafiya - rarediseases.org/rare-diseases/aarskog-syndrome
• NIH / NLM Tsarin Gida na Gida - ghr.nlm.nih.gov/condition/aarskog-scott-syndrome

Wasu mutane na iya samun ɗan jinkirin tunani, amma yara da ke da wannan yanayin suna da kyakkyawan ƙwarewar zamantakewa. Wasu mazan na iya samun matsaloli game da haihuwa.

Wadannan rikitarwa na iya faruwa:

• Canje-canje a cikin kwakwalwa
• Matsalar girma a cikin shekarar farko ta rayuwa
• Hakora masu daidaito
• Kamawa
• Testanƙancin mara izini

Kira mai kula da lafiyar ku idan yaronku ya jinkirta girma ko kuma idan kun lura da alamun rashin lafiya na Aarskog. Nemi shawara kan kwayoyin halitta idan kuna da tarihin iyali na cutar Aarskog. Tuntuɓi ƙwararren masanin kwayar halitta idan mai ba da sabis yana tsammanin ku ko yaranku na iya cutar Aarskog.

Ana iya samun gwajin kwayar halitta ga mutanen da ke da tarihin iyali na yanayin ko sanannen maye gurbi na kwayar halittar da ke haifar da shi.

Cutar Aarskog; Ciwon Aarskog-Scott; AAS; Ciwon ciwo na Faciodigitogenital; Gaciogenital dysplasia

• Fuska
• Pectus excavatum

D'Cunha Burkardt D, Graham JM. Girman jikin da ba daidai ba da gwargwado. A cikin: Pyeritz RE, Korf BR, Grody WW, eds. Ka'idodin Emery da Rimoin da Aiwatar da Kwayoyin Halittu da Tsarin Halitta: Ka'idodin Clinical da Aikace-aikace. 7th ed. Philadelphia, PA: Elsevier; 2019: sura 4.

Jones KL, Jones MC, Del Campo M. Matsakaici gajere, gyara fuska-al'aura. 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: babba D.