I-Cri du chat syndrome

I-Cri du chat syndrome iyiqembu lezimpawu ezibangelwa ukulahlekelwa ucezu lwenombolo ye-chromosome 5. Igama le-syndrome lisuselwa ekukhaleni kosana, oluphakeme futhi elizwakala njengekati.

I-Cri du chat syndrome ayivamile. Kubangelwa isiqeshana esilahlekile se-chromosome 5.

Ezimweni eziningi kukholakala ukuthi zenzeka ngesikhathi sokukhula kweqanda noma isidoda. Inani elincane lamacala lenzeka lapho umzali edlulisela ifomu elihlukile, elihlelwe kabusha le-chromosome enganeni yakhe.

Izimpawu zifaka:

• Ukukhala okuphakeme futhi kungazwakala njengekati
• Ukutshekelwa phansi emehlweni
• I-Epicanthal folds, isikhumba esingeziwe ngaphezulu kwekhoneni langaphakathi leso
• Isisindo sokuzalwa esiphansi nokukhula kancane
• Izindlebe ezisezingeni eliphansi noma ezimise ngokungajwayelekile
• Ukulahlekelwa ukuzwa
• Ukukhubazeka kwenhliziyo
• Ukukhubazeka kwengqondo
• Ukwehliswa okuncane noma ukuhlanganiswa kweminwe noma izinzwane
• Ukugoba komgogodla (scoliosis)
• Umugqa owodwa entendeni yesandla
• Amathegi esikhumba aphambi kwendlebe
• Ukuthuthuka okuhamba kancane noma okungaphelele kwamakhono emoto
• Ikhanda elincane (i-microcephaly)
• Umhlathi omncane (micrognathia)
• Amehlo asethwe kabanzi

Umhlinzeki wezokunakekelwa kwempilo uzokwenza ukuhlolwa komzimba. Lokhu kungakhombisa:

• Ingulube ye-Inguinal
• I-Diastasis recti (ukuhlukaniswa kwemisipha endaweni yesisu)
• Ithoni yemisipha ephansi
• Izici zobuso

Ukuhlolwa kofuzo kungakhombisa ingxenye elahlekile ye-chromosome 5. Ugebhezi lwe-x-ray lungaveza noma yiziphi izinkinga ngokuma kwesisekelo sogebhezi.

Akukho ukwelashwa okuqondile. Umhlinzeki wakho uzophakamisa izindlela zokwelapha noma zokuphatha izimpawu.

Abazali bengane enalesi sifo kufanele babe nokwelulekwa nokuhlolwa kwezofuzo ukuthola ukuthi ngabe umzali oyedwa unoshintsho ku-chromosome 5.

5P- Inhlangano - fivepminus.org

Ukukhubazeka kwengqondo kuvamile. Ingxenye eyodwa yezingane ezinalesi sifo ifunda amakhono anele okukhuluma ukuze ikwazi ukuxhumana. Ukukhala okufana nekati akubonakali kangako ngokuhamba kwesikhathi.

Izinkinga zincike enanini lokukhubazeka kwengqondo kanye nezinkinga zomzimba. Izimpawu zingathinta ikhono lomuntu lokuzinakekela.

Lesi sifo sitholakala kakhulu lapho kuzalwa. Umhlinzeki wakho uzoxoxa nawe ngezimpawu zengane yakho. Kubalulekile ukuqhubeka nokuvakashelwa njalo nabahlinzeki bengane ngemuva kokuphuma esibhedlela.

Ukwelulekwa nokuhlolwa ngofuzo kunconyelwe bonke abantu abanomlando womndeni walesi sifo.

Akukho ukuvimbela okwaziwayo. Imibhangqwana enomlando womndeni walesi sifo ofisa ukukhulelwa ingabheka ukwelulekwa ngezakhi zofuzo.

I-Chromosome 5p deletion syndrome; I-5p minus syndrome; I-Cat cry syndrome

IBacino CA, uLee B. ICytogenetics. Ku: Kliegman RM, St Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Incwadi kaNelson Yezingane. Umhlaka 21. IPhiladelphia, PA: Elsevier; 2020: isahluko 98.

IMadan-Khetarpal S, i-Arnold G.Izinkinga zofuzo nezimo ze-dysmorphic. Ku: Zitelli BJ, McIntire SC, Nowalk AJ, ama-eds. UZitelli noDavis ’Atlas of Pediatric Physical Diagnosis. Umhla wesi-7. IPhiladelphia, PA: Elsevier; 2018: isahluko 1.