Apert syndrome

Apert syndrome o se faamaʻi o le kenera lea e soʻo ai le sooga i le va o ponaivi ponaivi nai lo masani. E afaina ai le ulu ma foliga. Tamaiti e maua i le Apert syndrome e tele na i ai ni faʻaletonu o lima ma vae foi.

Apert Syndrome mafai ona pasi i lalo i aiga (tofi) o se autosomal uiga taatele. Lona uiga e naʻo le toʻatasi matua e manaʻomia le pasi le kenera masei mo se tamaititi e maua ai le maʻi.

O nisi mataupu ono tupu e aunoa ma se lauiloa talafaasolopito o aiga.

Apert syndrome e mafua mai i se tasi o lua suiga i le FGFR2 gafa O lenei faaletonu o le gene mafua ai ona vave tapunia nisi o sooga ivi o le ulu. O lenei tulaga ua taʻua o le craniosynostosis.

Faʻailoga aofia ai:

• O le vave tapunia o suʻiga i le va o ponaivi o le ulupoo, maitauina e le tuʻituʻiina o suʻi (craniosynostosis)
• E masani ona pepesi le taliga
• Fusion pe ogaoga webbing o le lona lua, lona tolu, ma le lona 4 tamatamai lima, e masani ona taʻua o "mite lima"
• Leiloa faʻalogo
• Tetele poʻo le tuai-tapunia o mea malulu i luga o le ulu o le pepe
• Mafai, lemu alualu i luma atamai (eseese mai lea tagata i lea tagata)
• Lauiloa pe pupula mata
• Mamao lalo-atinae o le ogatotonu
• Auivi (vae) faʻaleagaina
• Maualuga puupuu
• 'Upega tafaʻilagi poʻo le tuʻufaʻatasia o tamaʻi tamatamaivae

E tele isi faʻasologa e mafai ona maua ai foliga tutusa o foliga ma le ulu, ae le aofia ai le ogaoga o lima ma vae foliga ole Apert syndrome. Nei tutusa faʻamatalaga aofia ai:

• Carpenter syndrome (kleeblattschadel, cloverleaf ulu ulu)
• Crouzon faamaʻi (craniofacial disostosis)
• Pfeiffer syndrome
• Saethre-Chotzen syndrome

E faʻataʻitaʻi e le tausi soifua le suʻega o le tino. Lima, vae, ma ulupoo x-ave o le a faia. O suʻega faʻalogo e tatau ona faia i taimi uma.

Ole faʻataʻitaʻiga ole genetic e mafai ona faʻamaonia ai le faʻamaoniga ole Apert syndrome.

Togafitiga aofia ai taotoga e faasaʻo ai le le masani ai le tupu aʻe o le ulu, faapea foi mo le tuʻufaʻatasia o tamatamailima ma tamatamaivae. Tamaiti e maua i lenei faʻamaʻi e tatau ona suʻesuʻeina e se vaega faʻapitoa o le taotoga o le craniofacial i le nofoaga mo tamaiti.

E tatau ona faʻatalanoa se tagata faʻapitoa e faʻalogo pe a iai ni faʻafitauli tau faʻalogo.

Fanau Craniofacial Association: ccakids.org

Valaʻau lau tautua peʻa iai sau talaʻaga aiga ole Apert syndrome pe ua e maitauina le ulu o lau pepe e leʻo tupu masani.

Faʻamatalaga fesoasoani atonu e aoga pe a fai oe i ai se talaʻaga aiga o lenei faʻamaʻi ma o loʻo e fuafua e te maitaga. E mafai e lau tausimaʻi ona suʻesuʻe lau pepe i lenei faʻamaʻi a o to.

Acrocephalosyndactyly

• Syndactyly

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Kinsman SL, Johnston MV. Faʻasolosolo faʻasolosolo ole laʻau o neula. 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 609.

Mauck BM, Jobe MT. Faʻasolosolo faʻasolosolo ole lima. I le: Azar FM, Beaty JH, Canale ST, eds. Campbell's Operative Orthopedics. 13th lomiga. Filatelefia, PA: Elsevier; 2017: mata 79.

Robin NH, Falk MJ, Haldeman-Englert CR. FGFR-fesoʻotaʻi craniosynostosis syndromes. GeneReviews. 2011: 11. PMID: 20301628 www.ncbi.nlm.nih.gov/pubmed/20301628. Faʻafouina ia Iuni 7, 2011. Avanoa ia Iulai 31, 2019.