I-Acrodysostosis

I-Acrodysostosis yisifo esingavamile ngokweqile esikhona lapho kuzalwa (esizalwa naso). Kuholela ezinkingeni ngamathambo ezandla, izinyawo, namakhala, nokukhubazeka kwengqondo.

Iningi labantu abane-acrodysostosis abanalo umlando womndeni wesifo. Kodwa-ke, kwesinye isikhathi isimo sidluliselwa sisuka kumzali siye enganeni. Abazali abanalesi simo banethuba elilodwa kwababili lokudlulisela lesi sifo ezinganeni zabo.

Kukhona ingozi ethe xaxa nobaba asebekhulile.

Izimpawu zalesi sifo zifaka:

• Ukutheleleka okuvamile kwendlebe ephakathi
• Izinkinga zokukhula, izingalo nemilenze emifushane
• Izinkinga zokuzwa
• Ukukhubazeka kwengqondo
• Umzimba awuphenduli kuma-hormone athile, yize amazinga ama-hormone ejwayelekile
• Izici zobuso ezihlukile

Umhlinzeki wezokunakekelwa kwempilo uvame ukuxilonga lesi simo ngokuhlolwa komzimba. Lokhu kungakhombisa noma yikuphi okulandelayo:

• Iminyaka yamathambo ethuthukile
• Ukukhubazeka kwamathambo ezandleni nasezinyaweni
• Ukubambezeleka kokukhula
• Izinkinga ngesikhumba, isitho sangasese, amazinyo, namathambo
• Izingalo nemilenze emifushane enezandla nezinyawo ezincane
• Ikhanda elifushane, kulinganiswa ngaphambili kuye emuva
• Ukuphakama okufushane
• Ikhala elibanzi elincane, eliguqulwe ngebhuloho eliyisicaba
• Izici ezihlukile zobuso (ikhala elifushane, umlomo ovulekile, umhlathi ophumayo)
• Ikhanda elingavamile
• Amehlo ahlukaniswe kabanzi, kwesinye isikhathi abe nesikhumba esingeziwe ekhoneni leso

Ezinyangeni zokuqala zokuphila, ama-x-ray angakhombisa amadiphozithi enamabala we-calcium, abizwa ngokuthi ukugxuma, emathanjeni (ikakhulukazi ekhaleni). Izinsana nazo zingaba nazo:

• Iminwe nezinzwane ezifushane ngokungajwayelekile
• Ukukhula kokuqala kwamathambo ezandleni nasezinyaweni
• Amathambo amafushane
• Ukufinyezwa kwamathambo engalo eseduze kwesihlaka

Izakhi zofuzo ezimbili zixhunyaniswe nalesi simo, futhi kungenziwa ukuhlolwa kofuzo.

Ukwelashwa kuya ngezimpawu.

AmaHormone, njenge-hormone yokukhula, anganikezwa. Ukuhlinzwa ekwelapheni izinkinga zamathambo kungenzeka.

Lawa maqembu anganikeza imininingwane eminingi nge-acrodysostosis:

• Inhlangano Kazwelonke Yezinkinga Ezingajwayelekile - rarediseases.org/rare-diseases/acrodysostosis
• Isikhungo Sokwaziswa se-NIH Genetic and Rare Diseases - rarediseases.info.nih.gov/diseases/5724/acrodysostosis

Izinkinga zincike ezingeni lokubandakanyeka kwamathambo nokukhubazeka kwengqondo. Ngokuvamile, abantu benza kahle.

I-Acrodysostosis ingaholela ku:

• Ukukhubazeka kokufunda
• Isifo samathambo
• I-Carpal tunnel syndrome
• Ububanzi bokuqina bokuhamba emgogodleni, izindololwane, nezandla

Shayela umhlinzeki wengane yakho uma kuvela izimpawu ze-acrodystosis. Qiniseka ukuthi ubude nesisindo sengane yakho kuyalinganiswa ngesikhathi sokuvakasha ngakunye kwengane enhle. Umhlinzeki angakudlulisela ku:

• Uchwepheshe wezofuzo wokuhlola okugcwele kanye nezifundo ze-chromosome
• I-endocrinologist yezingane yokuphathwa kwezinkinga zokukhula kwengane yakho

U-Arkless-Graham; I-Acrodysplasia; IMaroteaux-Malamut

• I-anatomy yamathambo engaphambili

UJones KL, uJones MC, uDel Campo M. Amanye ama-dysplasias wamathambo. Ku: Jones KL, Jones MC, Del Campo M, abahleli. Amaphethini aSmith's Recognizable of Human Malformation. Umhla wesi-7. IPhiladelphia, PA: Elsevier Saunders; 2013: 560-593.

I-National Organisation for Rare Disorders iwebhusayithi. I-Acrodysostosis. rarediseases.org/rare-diseases/acrodysostosis. Kufinyelelwe ngoFebhuwari 1, 2021.

I-Silve C, uClauser E, uLinglart A. I-Acrodysostosis. IHorm Metab Res. 2012; 44 (10): 749-758. I-PMID: 22815067 pubmed.ncbi.nlm.nih.gov/22815067/.