Pfeiffer syndrome: yintoni na, iintlobo, isifo kunye nonyango

Umxholo

• Iindidi zePfeiffer Syndrome
• Uxilongo lwenziwa njani
• Unjani unyango

Isifo sePfeiffer sisifo esinqabileyo esenzeka xa amathambo enza intloko edibana kwangoko kunokuba bekulindelwe, kwiiveki zokuqala zokukhulelwa, ezikhokelela kuphuhliso lweziphene entloko nasebusweni. Ukongeza, enye into yesi sifo kukudibana phakathi kweminwe neenzwane zosana.

Oonobangela bayo yimfuza kwaye akukho nto yenziwe ngumama okanye utata ngexesha lokukhulelwa enokubangela esi sifo kodwa kukho izifundo ezibonisa ukuba xa abazali bekhulelwe emva kweminyaka engama-40, amathuba esi sifo mkhulu.

Iindidi zePfeiffer Syndrome

Esi sifo sinokuhlelwa ngokobunzima baso, kwaye sinokuba:

• Uhlobo lwe-1: Sesona sifo sinobulali kwaye senzeka xa kukho umanyano lwamathambo okakayi, izidlele zitshonile kwaye kukho utshintsho kwiminwe okanye kwiinzwane kodwa ngesiqhelo usana lukhula ngokwesiqhelo kwaye nobukrelekrele balo bugcinwa, nangona kunokubakho ukungeva kwaye haycecephalusi.
• Uhlobo lwe-2: Intloko ikwimo ye-clover, ineengxaki kwinkqubo ye-nervous system, kunye nokukhubazeka emehlweni, eminwe nasekubunjweni kwamalungu. Kule meko, umntwana une-fusion phakathi kwamathambo ezingalo kunye nemilenze kwaye ke akakwazi ukuba neengqiniba ezichaziweyo kunye namadolo kwaye kuhlala kukho ukudodobala kwengqondo okubandakanyekileyo.
• Uhlobo lwe-3: Inempawu ezifanayo nezohlobo lwe-2, nangona kunjalo, intloko ayikho kwimilo ye-clover.

Kuphela ziintsana ezizalwe zinohlobo 1 ezinokuthi zisinde, nangona kusenziwa utyando oluninzi ebomini babo, ngelixa iintlobo 2 no-3 zinzima kakhulu kwaye ngokubanzi aziphili emva kokuzalwa.

Uxilongo lwenziwa njani

Uxilongo lwenziwa ngesiquphe emva kokuzalwa ngokujonga zonke iimpawu anazo umntwana. Nangona kunjalo, ngexesha le-ultrasound, ugqirha wokubelekisa unokubonisa ukuba umntwana unesifo ukuze abazali bakwazi ukuzilungiselela. Kunqabile ukuba ugqirha obelethisayo abonise ukuba yiPfeiffer's Syndrome kuba kukho ezinye ii-syndromes ezinokuba neempawu ezifanayo ne-Apert's Syndrome okanye iCrouzon Syndrome, umzekelo.

Ezona mpawu ziphambili zesifo sikaPfeiffer kukudibana phakathi kwamathambo enza ukhakhayi kunye notshintsho eminweni nasezinzwaneni ezinokubonakalisa nge:

• I-Oval okanye i-asymmetric head shape, kwifom ye-3-leaf clover;
• Impumlo encinci;
• Ukuphazamiseka komoya;
• Amehlo angabonakala kakhulu kwaye ahlukeneyo;
• Izithupha zishinyene kakhulu kwaye zijike zaya ngaphakathi;
• Iinzwane ezinkulu zikude kude nezinye;
• Iinzwane zihlangene ngokudibanisa inwebu encinci;
• Kunokubakho ubumfama ngenxa yokwandiswa kwamehlo, isikhundla sazo kunye noxinzelelo lwamehlo olonyukayo;
• Kunokubakho ukungeva ngenxa yokungalunganga kwendlebe;
• Kunokubakho ukudodobala kwengqondo;
• Kukho i-hydrocephalus.

Abazali abanomntwana onje banokuba nabanye abantwana abane-syndrome efanayo kwaye ngenxa yeso sizathu kuyacetyiswa ukuba baye kugqirha wokucebisa ngemfuzo ukuze bafumane ulwazi olungcono kwaye bazi ukuba ngawaphi amathuba okuba nomntwana osempilweni.

Unjani unyango

Unyango lwe-Pfeiffer's syndrome kufuneka luqale emva kokuzalwa kunye notyando olunokunceda umntwana ukuba akhule ngcono kwaye athintele ukulahleka kombono okanye ukuva, ukuba ngaba likho ixesha lokwenza njalo. Ngokwesiqhelo usana olunesi sifo luye lwenziwe utyando kwikakayi, ebusweni nasemhlathini ukuze ludodobalise ingqondo, luguqule ukakayi, lulunge ngakumbi emehlweni, lwahlule iminwe kwaye luphucule ukuhlafuna.

Kunyaka wokuqala wobomi, kuyacetyiswa ukuba wenze utyando ukuvula ukhakhayi, ukuze ingqondo iqhubeke nokukhula ngesiqhelo, ngaphandle kokucinezelwa ngamathambo entloko. Ukuba umntwana unamehlo aqaqambe kakhulu, olunye uqhaqho lunokwenziwa ukulungisa ubungakanani beendlela ukuze kugcinwe umbono.

Ngaphambi kokuba umntwana agqibe iminyaka emi-2 ubudala, ugqirha unokucebisa ukuba kuvavanywe ugqirha ukuze kwenziwe utyando okanye kusetyenziswe izixhobo zokulungelelanisa amazinyo, eziyimfuneko ekondleni.