Isifo seAarskog

I-Aarskog syndrome sisifo esinqabileyo esichaphazela ukuphakama komntu, izihlunu, amathambo, amalungu esini kunye nokubonakala. Inokudluliselwa kwiintsapho (ezizuzwe njengelifa).

I-Aarskog syndrome sisifo esingumfuziselo esidityaniswa ne-X chromosome. Ichaphazela ikakhulu abesilisa, kodwa abantu basetyhini banokuba nefomathi ethe kratya. Imeko ibangelwa lutshintsho (utshintsho) kuhlobo olubizwa ngokuba yi "faciogenital dysplasia" (FGD1).

Iimpawu zale meko zibandakanya:

• Iqhosha leBelly elinamathelayo
• Ukuqhuma kwi-groin okanye kwi-scrotum
• Ukulibazisa ukukhula ngokwesondo
• Ukulibaziseka kwamazinyo
• Ukuhla kwe-palpebral ezantsi ukuya emehlweni (i-palpebral slant sisikhokelo sesilayidi esivela ngaphandle ukuya kwikona yangaphakathi yamehlo)
• Iinwele ezine "incopho yomhlolokazi"
• Isifuba esitshonileyo
• Ubunzima bokumodareyitha iingxaki zengqondo
• Ukuphakama okulinganiselweyo ukuya kubude obufutshane obunokungabonakali de umntwana abe li-1 ukuya kwi-3 yeminyaka ubudala
• Uphuhle kakubi icandelo eliphakathi lobuso
• Ubuso obujikeleziweyo
• Isikram esingqonge ipenisi (ishawl scrotum)
• Iminwe emifutshane kunye neenzwane nge-webbing elula
• Ukuqhekeka okukodwa entendeni yesandla
• Incinci, izandla ezibanzi neenyawo ezineminwe emifutshane kunye nomnwe wesihlanu ogobile
• Impumlo encinci ngeempumlo zixhomekeke phambili
• Amatyhalarha angehli (angafunwanga)
• Inxalenye ephezulu yendlebe isongwe ngaphezulu
• Indawo ebanzi engaphezulu komlomo ongaphezulu, icrase ezantsi komlebe ongezantsi
• Amehlo abekwe ngokubanzi ngeenkophe ezomeleleyo

Olu vavanyo lunokwenziwa:

• Ukuvavanywa kwemfuza kuguquko kwi FGD1 Uhlobo
• X-reyi

Ukuhambisa amazinyo kunokwenziwa ukunyanga ezinye zeempawu zobuso ezingaqhelekanga zomntu one-Aarskog syndrome anokuba nazo.

Ezi zixhobo zilandelayo zinokubonelela ngolwazi oluthe kratya kwi-Aarskog syndrome:

• Umbutho weSizwe weengxaki zoRare- rarediseases.org/rare-diseases/aarskog-syndrome
• Isalathiso sasekhaya se-NIH / NLM yemfuzo - ghr.nlm.nih.gov/condition/aarskog-scott-syndrome

Abanye abantu banokuba nokucotha kwengqondo, kodwa abantwana abanale meko bahlala beziphethe kakuhle. Amanye amadoda anokuba neengxaki zokuchuma.

Ezi ngxaki zinokwenzeka:

• Utshintsho kwingqondo
• Kunzima ukukhula kunyaka wokuqala wobomi
• Amazinyo alungelelaniswe kakubi
• Ukuxhuzula
• Amatyhalarha angaphantsi

Tsalela umnxeba ukhathalelo lwempilo ukuba umntwana wakho ulibazisile ukukhula okanye ukuba ubona naziphi na iimpawu ze-Aarskog syndrome. Funa iingcebiso ngemfuzo ukuba unembali yosapho yesifo seAarskog. Nxibelelana nengcali yemfuza ukuba umboneleli wakho ucinga ukuba wena okanye umntwana wakho unokuba nesifo iAarskog syndrome.

Ukuvavanywa kwemfuza kunokufumaneka kubantu abanembali yosapho yaloo meko okanye utshintsho olwaziwayo lofuzo oluyibangelayo.

Isifo se-Aarskog; Isifo seAarskog-Scott; I-AAS; Isifo seFacidiodigitogenital syndrome; Idysplasia yeGaciogenital

• Ubuso
• I-Pectus excavatum

UD'Cunha Burkardt D, uGraham JM. Ubungakanani bomzimba obungaqhelekanga kunye nenani. Ku: Pyeritz RE, Korf BR, Grody WW, ii-eds. Imigaqo ye-Emery kunye neRimoin kunye nokuziqhelanisa ne-Medical Genetics kunye neGenomics: Imigaqo yezonyango kunye nokusetyenziswa. Umhla wesi-7. IPhiladelphia, PA: Elsevier; I-2019: isahluko 4.

UJones KL, uJones MC, uDel Campo M. Umda omfutshane omfutshane, ubuso ± amalungu okuzala. Ku: Jones KL, Jones MC, Del Campo M, ii-eds. Iipateni ezaziwayo zikaSmith zoLungiso loMntu. Umhla wesi-7. IPhiladelphia, PA: Elsevier Saunders; Ngo-2013: isahluko D.