Rubinstein-Taybi syndrome

Rubinstein-Taybi syndrome (RTS) o se ituaiga faʻamaʻi. E aofia ai limamatua ma tamaʻi lima, tamaʻi tino, tino eseʻese foliga, ma fesuiaʻiga o tikeri ole mafaufau.

RTS o se tulaga seasea tupu. Fesuiaʻiga i kenera CREBBP ma EP300 o loʻo vaʻaia i nisi tagata ma lenei faʻamaʻi.

O nisi tagata ua misia atoa le gafa. Lenei e sili atu masani ai i tagata ma sili atu ogaoga faʻafitauli.

Tele o mataupu e sporadic (le pasi i lalo i aiga). E mafua ona o se faaletonu fou ole gafa e tupu a le o le sperm poʻo sela sela, pe ile taimi o le afuafua.

Faʻailoga aofia ai:

• Faalauteleina o lima matua ma vae matua
• Paneta
• Sili lauulu i luga o le tino (hirsutism)
• E le atoatoa le fatu, ono manaʻomia se taotoga
• Le atoatoa le malosi o le mafaufau
• Faoa faamalosi
• Tulaga puupuu e maitauina pe a uma le fanau mai
• Faʻasolosolo lemu atinaʻe o tomai faʻapitoa
• Faʻasolosolo atinae o le afi tomai faʻatasi ma le maualalo maso maso

O isi faʻailoga ma faʻailoga e ono aofia ai:

• Toʻesea pe faʻaopoopo fatugaʻo, ma isi faʻafitauli ma fatugaʻo poʻo tagāmimi
• O se ivi maualalo atinaʻe i le ogatotonu
• Le savali tumau pe maʻaʻa savali savali
• O mata e alu i lalo
• O taliga maualalo ma le faʻaletonu taliga
• Faʻalu mata mata (ptosis)
• Cataract
• Coloboma (o se faʻaletonu i le iris o mata)
• Microcephaly (matua laʻititi ulu)
• Vaapiapi, laʻititi, pe faʻapipiʻi le gutu ma nifo tumu
• Faʻailoaina pe "gutu" isu
• Fulufulu mafiafia ma faʻaputuga mata ma uumi mata
• Vaʻaiga le faʻaaluina (cryptorchidism), poʻo isi faʻalavelave suʻega

E faʻataʻitaʻi e le tausi soifua le suʻega o le tino. Toto tofotofoga ma x-ave mafai foi ona faia.

E mafai ona faia suʻesuʻega faʻafuaseʻi e iloa ai pe o genes e aʻafia i lenei faʻamaʻi ua misi pe ua suia.

E leai se faʻapitoa togafitiga mo RTS. Ae ui i lea, o togafitiga nei e mafai ona faʻaaogaina e pulea ai faʻafitauli e masani ona fesoʻotaʻi ma le tulaga.

• O taotoga e toe faʻaleleia ai ponaivi i lima matua poʻo tamaʻilima e mafai i nisi taimi ona faʻaleleia atili le uʻuina pe faʻamamaina le lagona faʻanoanoa.
• Polokalame faʻavaomalo vave ma aʻoaʻoga faʻapitoa e faʻatonutonu ai le le atoatoa atinaʻe.
• Faʻasino i amioga faʻapitoa ma vaega lagolago mo tagata o le aiga.
• Togafitiga faafomai mo faaletonu fatu, faaletonu le faalogo, ma faaletonu mata.
• Togafitiga mo le manava ma gastroesophageal reflux (GERD).

Rubinstein-Taybi Matua Vaega ISA: www.rubinstein-taybi.com

Ole toʻatele o tamaiti e mafai ona aʻoaʻo faitau i se vasega tulaga lua. Ole toʻatele o tamaiti ua faʻatuai le atiaʻe afi, ae ile averesi, latou te aʻoaʻo ia savali ile 2 1/2 tausaga ole matutua.

Faʻalavelave faʻalagolago i le a le vaega o le tino ua aʻafia. Faʻafitauli e ono aofia ai:

• Fafagaina faʻafitauli i pepe
• Faʻamaʻi pipisi taliga ma le faʻalogo
• Faʻafitauli ma foliga o le fatu
• Lē masani fatu fatu
• Maila le paʻu

O se taimi faʻatulagaina ma se genetist e fautuaina pe a maua e le tautua le faʻailoga o le RTS.

O fautuaga faʻapitoa e fautuaina mo ulugaliʻi ma se aiga talaʻaga o lenei faʻamaʻi o loʻo fuafuaina se maʻitaga.

Rubinstein syndrome, RTS

Burkardt DD, Graham JM. Lautele tino lapoa ma vaevaega. I totonu: Ryeritz RE, Korf BR, Grody WW, eds. Emery ma Rimoin's Principal ma Faʻataʻitaʻiga o Fomaʻi Genetics ma Genomics. 7th ed. Cambridge, MA: Elsevier Academic Press; 2019: chap 4.

Nussbaum RL, McInnes RR, Willard HF. Atinaʻega genetics ma fanau faʻaletonu. I le: Nussbaum RL, McInnes RR, Willard HF, eds. Thompson & Thompson Genetics i Faʻafomai. 8th ed. Filatelefia, PA: Elsevier; 2016: mata 14.

Stevens CA.Rubinstein-Taybi syndrome. Gene iloiloga. 2014; 8. PMID: 20301699 www.ncbi.nlm.nih.gov/pubmed/20301699. Faʻafouina Aukuso 7, 2014. Avanoa ia Iulai 30, 2019.