Isifo se-Aarskog

I-Aarskog syndrome isifo esingajwayelekile kakhulu esithinta ukuphakama komuntu, imisipha, amathambo, izitho zangasese, nokubukeka. Ingadluliselwa ngemindeni (izuzwe njengefa).

I-Aarskog syndrome yisifo sofuzo esixhunyaniswe ne-X chromosome. Ithinta ikakhulukazi abesilisa, kepha abesifazane bangaba nefomu elithambile. Isimo sidalwa yizinguquko (ukuguquka) kofuzo olubizwa nge- "faciogenital dysplasia" (FGD1).

Izimpawu zalesi simo zifaka:

• Inkinobho yeBelly enamathelayo
• Ukuqhuma ku-groin noma i-scrotum
• Ukulibazisa ukuvuthwa kwezocansi
• Ukubambezeleka kwamazinyo
• Ukwehla kwe-palpebral slant kuya emehlweni (i-palpebral slant iyisiqondiso sendawo ethanjisiwe kusuka ekhoneni elingaphandle kuye ngaphakathi lamehlo)
• Uboya bezinwele obunenani "eliphakeme lomfelokazi"
• Isifuba esishonile kancane
• Izinkinga zengqondo eziphakathi nendawo
• Ukuphakama okulingene kuya kokulingene okungahle kungabonakali kuze kube yilapho ingane ineminyaka engu-1 kuya kwengu-3 ubudala
• Isigaba sobuso esithuthukiswe kabi
• Ubuso obuyindilinga
• Iscrotum sizungeze ipipi (itshali scrotum)
• Iminwe nezinzwane ezimfushane ezine-webbing emnene
• I-crease eyodwa entendeni yesandla
• Izandla ezincane nezinyawo ezibanzi ezineminwe emifushane nomunwe wesihlanu ogobile
• Ikhala elincane elinamakhala lifakwe phambili
• Amasende angazange awe phansi (angafunwanga)
• Ingxenye ephezulu yendlebe isongwe ngaphezudlwana
• Indawo ebanzi engenhla kwendebe engenhla, ingquza engezansi kwendebe engezansi
• Amehlo asethwe kabanzi anamajwabu amehlo alengayo

Lezi zivivinyo zingenziwa:

• Ukuhlolwa kofuzo kwezinguquko ku FGD1 isakhi sofuzo
• Ama-X-ray

Ukuhambisa amazinyo kungenziwa ukwelapha ezinye zezici zobuso ezingavamile umuntu one-Aarskog syndrome angaba nazo.

Izinsizakusebenza ezilandelayo zinganikeza imininingwane eminingi nge-Aarskog syndrome:

• Inhlangano Kazwelonke Yezinkinga Ezingajwayelekile - rarediseases.org/rare-diseases/aarskog-syndrome
• Isethenjwa Sasekhaya se-NIH / NLM - ghr.nlm.nih.gov/condition/aarskog-scott-syndrome

Abanye abantu bangase babe nokuhamba kancane kwengqondo, kepha izingane ezinalesi simo zivame ukuba namakhono amahle okuxhumana nabantu. Abanye besilisa bangaba nezinkinga ngokuzala.

Lezi zinkinga zingenzeka:

• Izinguquko ebuchosheni
• Kunzima ukukhula ngonyaka wokuqala wokuphila
• Amazinyo aqondaniswe kabi
• Ukuquleka
• Amasende angehlisiwe

Shayela umhlinzeki wakho wezokunakekelwa kwezempilo uma ingane yakho ibambezele ukukhula noma uma ubona noma yiziphi izimpawu ze-Aarskog syndrome. Funa ukwelulekwa ngezakhi zofuzo uma unomlando womndeni we-Aarskog syndrome. Thintana nodokotela wezofuzo uma umhlinzeki wakho ecabanga ukuthi wena noma ingane yakho ningaba ne-Aarskog syndrome.

Ukuhlolwa kofuzo kungatholakalela abantu abanomlando womndeni waleso simo noma ukuguqulwa okwaziwayo kofuzo olusibangelayo.

Isifo se-Aarskog; Isifo se-Aarskog-Scott; I-AAS; Isifo se-Faciodigitogenital; I-dysplasia ye-Gaciogenital

• Ubuso
• I-Pectus excavatum

UD'Cunha Burkardt D, uGraham JM. Usayizi womzimba ongajwayelekile nenani. Ku: Pyeritz RE, Korf BR, Grody WW, abahleli. Izimiso kanye nokusebenza kwe-Emery neRimoin kwe-Medical Genetics and Genomics: Izimiso Zomtholampilo Nezicelo. Umhla wesi-7. IPhiladelphia, PA: Elsevier; 2019: isahluko 4.

UJones KL, uJones MC, uDel Campo M. Isiqu esifushane ngokulingene, sobuso ± isitho sangasese. Ku: Jones KL, Jones MC, Del Campo M, abahleli. Amaphethini aSmith's Recognizable of Human Malformation. Umhla wesi-7. IPhiladelphia, PA: Elsevier Saunders; 2013: isahluko D.