Isifo seRubinstein-Taybi

Isifo seRubinstein-Taybi (RTS) sisifo semfuza. Kubandakanya izithupha neenzwane ezibanzi, ubude obufutshane, iimpawu zobuso ezahlukileyo, kunye namaqondo ahlukeneyo okukhubazeka kwengqondo.

I-RTS yimeko enqabileyo. Umahluko kwimfuza YENZA kwaye EP300 zibonwa kwabanye abantu abakule meko.

Abanye abantu bayaphoswa yimfuza ngokupheleleyo. Oku kuqhelekile kubantu abaneengxaki ezinzima.

Uninzi lweziganeko zenzeka manqaphanqapha (zingadluliswanga kwiintsapho). Banokubakho ngenxa yesiphene esitsha semfuza esenzeka nokuba kukwisidoda okanye kwiiseli zamaqanda, okanye ngexesha lokukhulelwa.

Iimpawu zibandakanya:

• Ukwandiswa koobhontsi kunye neenzwane ezinkulu
• Ukuqunjelwa
• Izinwele ezingaphezulu komzimba (hirsutism)
• Iziphene zentliziyo, mhlawumbi zifuna utyando
• Ukukhubazeka kwengqondo
• Ukuxhuzula
• Isiqu esifutshane esiqaphelekayo emva kokuzalwa
• Ukukhula kancinci kwezakhono zokuqonda
• Ukukhula kancinci kwezakhono zeemoto ezihamba kunye nethoni yemisipha esezantsi

Ezinye iimpawu kunye neempawu zingabandakanya:

• Ukungabikho okanye intso eyongezelelweyo, kunye nezinye iingxaki zezintso okanye isinyi
• Ithambo elingaphuhliswanga embindini
• Ukuhamba okungazinzanga okanye ukuqina
• Amehlo athambileyo asezantsi
• Iindlebe ezisezantsi okanye iindlebe ezingalunganga
• Ukujikisa ijwabu leso (ptosis)
• Iimpawu
• IColoboma (isiphene kwi-iris yamehlo)
• I-Microcephaly (intloko encinci encinci)
• Umxinwa, mncinci, okanye umlomo uvalelwe ngamazinyo axineneyo
• Impumlo eyaziwayo okanye "enomlomo"
• Amashiya ashinyeneyo kwaye arched ngeenkophe ezinde
• Ityhalarha engachazwanga (i-cryptorchidism), okanye ezinye iingxaki zamatyhalarha

Umboneleli wezempilo uya kwenza uvavanyo lomzimba. Uvavanyo lwegazi kunye ne-x-reyi zinokwenziwa.

Uvavanyo lwemfuzo lunokwenziwa ukufumanisa ukuba ngaba ii-genes ezichaphazelekayo kwesi sifo zilahlekile okanye zitshintshiwe.

Akukho lonyango luthile kwiRTS. Nangona kunjalo, ezi ndlela zonyango zingasetyenziselwa ukulawula iingxaki eziqhelekileyo ezinxulumene nemeko.

• Ugqirha lokulungisa amathambo kubhontsi okanye kwiinzwane ngamanye amaxesha kunokuphucula ukubamba okanye ukunciphisa ukungonwabi.
• Iinkqubo zongenelelo kwangoko kunye nemfundo ekhethekileyo yokujongana nokukhubazeka okuphuhlisayo.
• Ukuthunyelwa kwiingcali zokuziphatha kunye namaqela enkxaso kumalungu osapho.
• Unyango lweziphene zentliziyo, ukulahleka kwendlebe, kunye nokungaqhelekanga kwamehlo.
• Unyango lokuqhinwa kunye ne-gastroesophageal reflux (GERD).

Iqela labazali laseRubinstein-Taybi e-USA: www.rubinstein-taybi.com

Uninzi lwabantwana banokufunda ukufunda kwinqanaba lokuqala. Uninzi lwabantwana lulibazisile ukukhula kwemoto, kodwa ngokomndilili, bafunda ukuhamba nge-2 1/2 yeminyaka ubudala.

Iingxaki zixhomekeke kwiliphi ilungu lomzimba elichaphazelekayo. Iingxaki zinokubandakanya:

• Iingxaki zokondla kwiintsana
• Ukuphindaphindeka kosulelo lwendlebe kunye nokulahleka kwendlebe
• Iingxaki ngobume bentliziyo
• Ukubetha kwentliziyo okungaqhelekanga
• Ukukrala kolusu

Ukuqeshwa kugqirha kuyacetyiswa ukuba umboneleli ufumana iimpawu zeRTS.

Ukucebisa ngemfuza kuyacetyiswa kwizibini ezinembali yosapho yesi sifo abaceba ukukhulelwa.

Isifo seRubinstein, RTS

IBurkardt DD, uGraham JM. Ubungakanani bomzimba obungaqhelekanga kunye nenani. Ku: Ryeritz RE, Korf BR, Grody WW, ii-eds. Imigaqo ye-Emery kunye neRimoin kunye nokuziqhelanisa ne-Medical Genetics kunye neGenomics. Umhla wesi-7. ICambridge, MA: Elsevier Academic Press; I-2019: isahluko 4.

INussbaum RL, iMcInnes RR, uWillard HF. Uphuhliso lwemfuza kunye neziphene zokuzalwa. Ku: Nussbaum RL, McInnes RR, Willard HF, ii-eds. Thompson & Thompson Genetics kwiyeza. Ngomhla we-8. IPhiladelphia, PA: Elsevier; 2016: isahluko 14.

UStevens CA.Isifo seRubinstein-Taybi. Uphengululo lweGene. Ngo-2014; 8. IINKCUKACHA: 20301699 www.ncbi.nlm.nih.gov/pubmed/20301699. Ukuhlaziywa kuka-Agasti 7, 2014. Kufikeleleke ngoJulayi 30, 2019.