I-Acrodysostosis

I-Acrodysostosis sisifo esinqabileyo kakhulu esikhoyo ekuzalweni (kokuzalwa). Kukhokelela kwiingxaki ngamathambo ezandla, iinyawo, kunye nempumlo, kunye nokukhubazeka kwengqondo.

Uninzi lwabantu abane-acrodysostosis abanayo imbali yosapho yesi sifo. Nangona kunjalo, ngamanye amaxesha imeko idluliselwa ukusuka kumzali kuye emntwaneni. Abazali abanale meko banethuba elinye kwababini lokudlulisela esi sifo kubantwana babo.

Kukho umngcipheko omncinci kancinci kootata abadala.

Iimpawu zesi sifo zibandakanya:

• Izifo ezenziwa rhoqo kwindlebe ephakathi
• Iingxaki zokukhula, iingalo kunye nemilenze emifutshane
• Iingxaki zokuva
• Ukukhubazeka kwengqondo
• Umzimba awuphenduli kwiihomoni ezithile, nangona amanqanaba ehomoni aqhelekile
• Iimpawu zobuso ezahlukileyo

Umboneleli ngononophelo lwempilo uhlala echonga le meko ngovavanyo lomzimba. Oku kungabonisa nakuphi na oku kulandelayo:

• Ubudala bethambo
• Ukukhubazeka kwethambo ezandleni nasezinyaweni
• Ukulibaziseka kokukhula
• Iingxaki ngolusu, amalungu esini, amazinyo, kunye namathambo
• Imikhono emfutshane nemilenze inezandla neenyawo ezincinci
• Intloko emfutshane, ilinganiswe ngaphambili ukuya ngasemva
• Ukuphakama okufutshane
• Incinci, ivule impumlo ebanzi ngebhulorho ethe tyaba
• Iimpawu ezahlukileyo zobuso (impumlo emfutshane, umlomo ovulekileyo, umhlathi ophumela ngaphandle)
• Intloko engaqhelekanga
• Amehlo ahlukeneyo, ngamanye amaxesha anolusu olongezelelekileyo kwikona yamehlo

Kwiinyanga zokuqala zobomi, ii-x-reyi zingabonisa iidipozithi ezinamabala, ezibizwa ngokuba kukugxala, emathanjeni (ngakumbi impumlo). Iintsana nazo zinakho:

• Iminwe neenzwane ezimfutshane ngokungaqhelekanga
• Ukukhula kwangoko kwamathambo ezandleni nasezinyaweni
• Amathambo amafutshane
• Ukunciphisa amathambo engalo kufutshane nesihlahla

Iijeni ezimbini zidityaniswe nale meko, kwaye uvavanyo lwemfuzo lunokwenziwa.

Unyango luxhomekeke kwiimpawu.

IiHormone, ezinje ngehomoni yokukhula, zinokunikwa. Utyando lokunyanga iingxaki zethambo lunokwenziwa.

La maqela anokubonelela ngolwazi oluthe kratya kwi-acrodysostosis:

• Umbutho weSizwe woNxunguphalo oluNqabileyo-ararediseases.org/rare-diseases/acrodysostosis
• IZiko loLwazi lweZifo zeNiH kunye neRare Rare - rarediseases.info.nih.gov/diseases/5724/acrodysostosis

Iingxaki zixhomekeke kwinqanaba lokubandakanyeka kwamathambo kunye nokukhubazeka kwengqondo. Ngokubanzi, abantu benza kakuhle.

I-Acrodysostosis inokukhokelela ku:

• Ukukhubazeka kokufunda
• Isifo samathambo
• Isifo seCarpal tunnel
• Uluhlu olonyukayo lokuhamba emqolo, iingqiniba kunye nezandla

Tsalela umnikezeli womntwana wakho ukuba ngaba ukukhula kweempawu ze-acrodystosis. Qinisekisa ukuba ubude kunye nobunzima bomntwana wakho bulinganiswa ngexesha lotyelelo ngalunye lomntwana olungileyo. Umboneleli unokukuthumela ku:

• Ingcali yemfuza yovavanyo olupheleleyo kunye nezifundo ze-chromosome
• I-endocrinologist yabantwana kulawulo lweengxaki zokukhula komntwana wakho

U-Arkless-Graham; IAcrodysplasia; IMaroteaux-Malamut

• Ngaphambili i-anatomy yamathambo

UJones KL, uJones MC, uDel Campo M. Ezinye iidysplasias zamathambo. Ku: Jones KL, Jones MC, Del Campo M, ii-eds. Iipateni ezaziwayo zikaSmith zoLungiso loMntu. Umhla wesi-7. IPhiladelphia, PA: Elsevier Saunders; Ngo-2013: 560-593.

Umbutho weSizwe weZinto eziNqabileyo kwiwebhusayithi. I-Acrodysostosis. rarediseases.org/rare-diseases/acrodysostosis. Kufumaneka ngoFebruwari 1, 2021.

Isilve C, iClauser E, iLinglart A.I-Acrodysostosis. IHorm Metab Res. Ngo-2012; 44 (10): 749-758. IINKCUKACHA: 22815067 pubmed.ncbi.nlm.nih.gov/22815067/.