Acrodysostosis

Acrodysostosis bụ ọrịa na-adịghị ahụkebe na-adị n'oge ọmụmụ (congenital). Ọ na-ebute nsogbu na ọkpụkpụ aka, ụkwụ, na imi, na nkwarụ ọgụgụ isi.

Otutu ndi nwere acrodysostosis enweghi ezin’ulo nke oria a. Otú ọ dị, mgbe ụfọdụ ọnọdụ a na-ebufere site n'aka nne na nna gaa na nwa. Ndị nne na nna nwere nsogbu a nwere ohere 1 n'ime 2 nke ibunye ụmụ ha ọrịa a.

Odi nsogbu di uku n’ebe ndi bu nna no.

Mgbaàmà nke nsogbu a gụnyere:

• Na-efe efe n'etiti ntị oge niile
• Nsogbu uto, ogwe aka dị mkpirikpi na ụkwụ
• Nsogbu anụ
• Nkwarụ ọgụgụ isi
• Ahụ anaghị anabata ụfọdụ homonụ, ọ bụ ezie na ogo hormone dị nkịtị
• Ihe iche ihu

Ndị nlekọta ahụike nwere ike ịchọpụta ọnọdụ a site na nyocha anụ ahụ. Nke a nwere ike gosipụta otu n'ime ndị a:

• Ọkpụkpụ dị elu
• Ọkpụkpụ nrụrụ aka na ụkwụ
• Igbu oge n'uto
• Nsogbu banyere akpụkpọ, akụkụ ahụ nwoke, ezé, na ọkpụkpụ
• Aka dị mkpirikpi na ụkwụ nwere obere aka na ụkwụ
• Isi dị mkpụmkpụ, tụọ n'ihu gaa azụ
• Ogologo mkpụmkpụ
• Obere, upturned sara mbara imi na ewepụghị akwa
• Ihe puru iche nke iru (obere imi, oghere ghere oghe, agbagba nke na-apụ apụ)
• Isi na-adịghị ahụkebe
• Anya sara mbara, mgbe ụfọdụ na-agbakwụnye akpụkpọ ahụ n'akụkụ akuku anya

N’ọnwa ndị mbụ nke ndụ, ụzarị ọkụ nwere ike igosi ihe ana - enye n’ahụ́ nke a na-akpọ stippling, n’ọkpụkpụ (ọkachasị imi). Mụaka nwekwara:

• Nkịtị mkpịsị aka na mkpịsị aka
• Ọkpụkpụ mmalite nke ọkpụkpụ na aka na ụkwụ
• Ọkpụkpụ dị mkpụmkpụ
• Mkpụmkpụ nke ọkpụkpụ aka dị nso na nkwojiaka

E jikọtara mkpụrụ ndụ ihe nketa abụọ na ọnọdụ a, enwere ike ịme nyocha mkpụrụ ndụ.

Ọgwụgwọ dabere na mgbaàmà ya.

Enwere ike inye Hormones, dịka uto uto. Enwere ike ịwa ahụ iji gwọọ nsogbu ọkpụkpụ.

Ndị otu a nwere ike inyekwu ozi banyere acrodysostosis:

• Organizationtù Mba Maka Ọrịa Na-adịghị - rarediseases.org/rare-diseases/acrodysostosis
• NIH Genesos na Rare Information Information Center - rarediseases.info.nih.gov/diseases/5724/acrodysostosis

Nsogbu dabere na ogo nke itinye ọkpụkpụ na nkwarụ ọgụgụ isi. Ke ofụri ofụri, ndị mmadụ na-eme nke ọma.

Acrodysostosis nwere ike iduga:

• Disabilitymụta nkwarụ
• Ọrịa ogbu na nkwonkwo
• Ọrịa carpal
• Ọnọdụ dịwanye njọ n’ọkpụkpụ azụ, ikpere aka, na aka

Kpọọ onye na-enye nwa gị ma ọ bụrụ na ihe ịrịba ama acrodystosis amalite. Gbaa mbọ hụ na a tụrụ ogo na ogo nwa gị n’oge nleta ọ bụla nke ọma. Onye na-eweta ọrụ nwere ike zoo gị na:

• Ọkachamara mkpụrụ ndụ ihe nketa maka nyocha zuru ezu na ọmụmụ chromosome
• Ọkachamara nke pediatric endocrinologist maka njikwa nsogbu nsogbu nwa gị

Arkless-Graham; Acrodysplasia; Maroteaux-Malamut

• Ọkpụkpụ akwara ihu

Jones KL, Jones MC, Del Campo M. Ọkpụkpụ ndị ọzọ. Na: Jones KL, Jones MC, Del Campo M, eds. ’Skpụrụ Smith Na-achọpụta ofkpụrụ nke Mmebi Mmadụ. Nke 7. Philadelphia, PA: Elsevier Saunders; 2013: 560-593.

Organizationtù Na-ahụ Maka Ọrịa Na-ahụ Maka Ahụhụ na weebụsaịtị. Acrodysostosis. rarediseases.org/rare-diseases/acrodysostosis. Nabata February 1, 2021.

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