Treacher Collins syndrome

Treacher Collins syndrome o se tuʻufaʻasolosolo tulaga e mafua ai faʻafitauli ma le fausaga o foliga. Tele o mataupu e le tuʻufaʻatasia e aiga.

Suiga i le tasi o le tolu genes, TCOF1, POLR1C, poʻo POLR1D, e mafai ona taʻitaʻia ai i le Treacher Collins syndrome. O le tuutuuga mafai ona pasi i lalo i aiga (tofi). Peitaʻi, o le tele o taimi, e leai seisi tagata o le aiga ua aʻafia.

O lenei tulaga e ono eseese i le ogaoga mai lea augatupulaga i lea auga tupulaga ma mai lea tagata i lea tagata.

Faʻailoga e ono aofia ai:

• Ole vaega i fafo ole taliga e le masani ai pe toeititi a misi atoa foi
• Leiloa faʻalogo
• Laʻititi auvae (micrognathia)
• Tele gutu
• Le atoatoa i le laumata lalo (coloboma)
• Ulu ulu e oʻo atu i alafau
• Lugā gao

O le tamaititi e masani ona faʻaalia le poto masani. O se suʻega o le pepe e ono faʻaalia ai le tele o faʻafitauli, e aofia ai:

• Le masani foliga mata
• Taʻamilosaga alafau
• Lulu poʻo le laugutu
• Auvae auvae
• Taliga maualalo
• Faʻafia masani taliga
• Kanata taliga le masani ai
• Leiloa faʻalogo
• Faʻaletonu i le mata (coloboma e sosolo atu i le tapuni pito i lalo)
• Faʻapaʻu mata i luga o le laumata pito i lalo

O suʻesuʻega faʻafuaseʻi e mafai ona fesoasoani e faʻailoa suiga o kenera e fesoʻotaʻi ma lenei tulaga

O le faʻalogo leiloa e togafitia e faʻamautinoa ai le lelei sili atu i le aʻoga.

Ole mulimuli mai ole fomaʻi tipitipi e taua tele, aua o tamaiti e maua ile maʻi lea atonu e manaʻomia le tele o faʻagaioiga e faʻasaʻo ai ni faaletonu ole fanau mai. Ole taotoga palasitika e mafai ona faʻasaʻo le toe gaugau ma isi suiga ile faʻavae foliga.

Mata: Le National Craniofacial Association - www.faces-cranio.org/

O tamaiti e maua ile faʻamaʻi lea e masani ona tupu aʻe e avea ma tagata matutua e masani ona malamalama.

Faʻafitauli e ono aofia ai:

• Faʻafitauli faigata
• Tautala faigata
• Faafitauli tau fesootaiga
• Faʻafitauli vaʻai

Ole tulaga lea e masani ona vaaia ile fanau mai.

O faʻamatalaga faʻavae e mafai ona fesoasoani i aiga ia malamalama i le tulaga ma le auala e tausia ai le tagata.

E fautuaina le faufautua ole genetic pe a fai e iai sau talaʻaga a le aiga o lenei faʻamaʻi ma e manaʻo e te ma.

Disostosis Mandibulofacial; Treacher Collins-Franceschetti syndrome

Dhar V. Syndrome ma gaioiga faʻaaliga. I le: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Tusitusiga o Pediatrics. 21 ed. Filatelefia, PA: Elsevier; 2020: chap 337.

Katsanis SH, Jabs EW. Treacher Collins syndrome. GeneReviews. 2012: 8. PMID: 20301704 www.ncbi.nlm.nih.gov/pubmed/20301704. Faʻafou Setema 27, 2018. Avanoa ia Iulai 31, 2019.

Posnick JC, Tiwana PS, Panchal NH. Treacher Collins syndrome: iloiloga ma togafitiga. I le: Fonseca RJ, ed. Taotoga Lava ma Maxillofacial. 3rd ed. St Louis, MO: Elsevier; 2018: chap 40.