Isifo seCri du chat

I-Cri du chat syndrome liqela leempawu ezibangelwa kukusilela kwisiqwenga senombolo ye-chromosome 5. Igama lesifo lisekwe ekukhaleni kosana, oluphakame kakhulu kwaye livakala ngathi yikati.

I-Cri du chat syndrome inqabile. Kubangelwa sisiqwengana esilahlekileyo se-chromosome 5.

Uninzi lweziganeko kukholelwa ukuba zenzeka ngexesha lokukhula kweqanda okanye isidoda. Inani elincinci lamatyala lenzeka xa umzali egqitha ngendlela eyahlukileyo, ehlelwe ngokutsha ye-chromosome emntwaneni wakhe.

Iimpawu zibandakanya:

• Ukulila okuphezulu kwaye kunokuvakala ngathi yikati
• Ukutshala ezantsi emehlweni
• I-Epicanthal folds, ulusu olongezelelekileyo kwikona engaphakathi yamehlo
• Ubunzima bokuzalwa kunye nokukhula kancinci
• Iindlebe ezisezantsi okanye ezimile ngendlela engaqhelekanga
• Ukuphulukana nokuva
• Iziphene zentliziyo
• Ukukhubazeka kwengqondo
• Ukwahlula phakathi okanye ukudibanisa iminwe okanye iinzwane
• Ukuphamba komqolo (scoliosis)
• Umgca omnye entendeni yesandla
• Iithegi zolusu ziphambi kwendlebe
• Ukucotha okanye ukungapheleli kophuhliso lwezakhono zemoto
• Intloko encinci (microcephaly)
• Umhlathi omncinci (micrognathia)
• Amehlo abekwe ngokubanzi

Umboneleli wezempilo uya kwenza uvavanyo lomzimba. Oku kungabonisa:

• Ingqolowa ye-Inguinal
• I-Diastasis recti (ukwahlulwa kwemisipha kwindawo esiswini)
• Ithoni yezihlunu ezisezantsi
• Iimpawu zobuso

Uvavanyo lwe-Genetic lunokubonisa indawo elahlekileyo ye-chromosome 5. Ukhakhayi lwe-x-reyi lunokuveza naziphi na iingxaki ngobume besiseko sokhakhayi.

Akukho lonyango luthile. Umboneleli wakho uya kuphakamisa iindlela zokunyanga okanye zokulawula iimpawu.

Abazali bomntwana onale syndrome kufuneka babenengcebiso ngofuzo kunye novavanyo lokufumanisa ukuba ngaba omnye wabazali unenguqu kwi-chromosome 5.

5P- Umbutho-ihlanupminus.org

Ukukhubazeka kwengqondo kuqhelekile. Isiqingatha sabantwana abanale syndrome bafunda izakhono ezaneleyo zokuthetha. Isililo esifana nekati siye siqapheleke ngokuhamba kwexesha.

Iingxaki zixhomekeke kwinani lokukhubazeka kwengqondo kunye neengxaki zomzimba. Iimpawu zinokuchaphazela amandla omntu okuzikhathalela.

Esi sifo sihlala sifunyaniswa ngokuzalwa. Umboneleli wakho uya kuxoxa ngeempawu zomntwana wakho kunye nawe. Kubalulekile ukuqhubeka utyelelo rhoqo kunye nabanikezeli bomntwana emva kokuphuma esibhedlele.

Ukucebisa ngemfuza kunye nokuvavanywa kuyacetyiswa kubo bonke abantu abanembali yosapho yesi sifo.

Akukho sithintelo saziwayo. Amaqabane anembali yosapho yesi sifo anqwenela ukukhulelwa angajonga ingcebiso ngemfuzo.

Isifo sokususa iChromosome 5p; 5p thabatha syndrome; Isifo seikati sokukhala

I-Bacino CA, uLee B. ICytogenetics. Ku: Kliegman RM, St Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, ii-eds. Incwadi kaNelson yeNcwadi yePediatrics. Umhla wama-21. IPhiladelphia, PA: Elsevier; 2020: isahluko 98.

UMadan-Khetarpal S, uArnold G.Ukuphazamiseka kwemfuza kunye neemeko zedysmorphic. Ku: Zitelli BJ, McIntire SC, Nowalk AJ, ii-eds. UZitelli no-Davis ’Atlas of Pediatric Physical Diagnosis. Umhla wesi-7. IPhiladelphia, PA: Elsevier; I-2018: isahluko 1.