Yu pikin gɛt dɛn sik ya? Lɛ wi lan bɔt di sik we dɛn kɔl Shprintzen-Goldberg Syndrome (SGS) .

Tide wi go tɔk bɔt wan rare genetic condition, we min se nɔto ɔlman de si am. Dɛn kɔl am Shprintzen-Goldberg Syndrome (SGS). Sɔntɛm yu nɔ ivin yɛri bɔt dis nem. Bɔt i rili impɔtant fɔ no bɔt dɛn kayn tin ya, bikɔs da tɛm de wi kin no di sayn dɛn kwik kwik wan ɛn go to di dɔktɔ advays we wi nid.

Wetin na di sik we dɛn kɔl Shprintzen-Goldberg Syndrome (SGS)?

Fɔ tɔk am simpul wan, Shprintzen-Goldberg Syndrome (SGS) na wan sik we nɔ kin apin so ɔltɛm we kin afɛkt difrɛn pat dɛn na wi bɔdi. i kin mek pikin gεt sכm tin dεm we nכ kɔmɔn na in fes, fכ fכm di sכkul bon dεm bifo tεm (dεn kכl dis ``Craniosynostosis''), difrεn chenj dεm na di skel, prכblεm wit di bren εn nεv sεstem (fכ egzampl, i de delay fכ divεlכp in intellektual divεlכpmεnt), εn sכmtεm sכm hat dεfεkt.

tu כda nem dεm de we dεn yuz fכ dis kכndyushכn, ``Marfanoid-craniosynostosis syndrome'' εn ``Shprintzen-Goldberg craniosynostosis syndrome''. Pan ɔl we i kin tan lɛk se di nem dɛn kɔmplikt smɔl, di men tin na fɔ ɔndastand se dis na tin we pɔsin kin gɛt frɔm in jɛnɛtiks.

Aw kɔmɔn tin fɔ SGS?

Shprintzen-Goldberg Syndrome na rili wan sik wae nɔr kin bɔrku. Sote naw, di mεdikal rεkɔd dεm dεn nכ mεnshכn lεk 50 pipul dεm wae gεt dis sik. Dat min se na wan wan pipul dɛn nɔmɔ gɛt dis sik na di wɔl.

Wan ɔda tin bɔt dis na dat di sayn dɛm fɔ SGS kin tan lɛk tu ɔda jenɛtik kɔndishɔn dɛm we dɛn kɔl Marfan Syndrome ɛn Loeys-Dietz Syndrome, so sɔntɛnde i kin at smɔl fɔ mek dɔktɔ dɛn no am kɔrɛkt wan. So, e tranga fɔ tɔk ɔmɔs pipul dɛn rili gɛt dis sik.

Wetin na di difrɛns bitwin Shprintzen-Goldberg Sindrom, Marfan Sindrom, ɛn Loeys-Dietz Sindrom?

Pan ɔl we i kin tan lɛk se di tin dɛn we de sho se dɛn tri tin ya fiba, na difrɛn we dɛn we dɛn kin chenj dɛn jɛnɛtiks kin mek dɛn gɛt dis sik . Speshal, pipul dɛm wae gɛt SGS kin gɛt intɛlektual disabiliti. Dɛn nɔ kin gɛt at sik bak pas di wan dɛn we gɛt Marfan Syndrome ɛn Loeys-Dietz Syndrome. Bɔt mɛmba se ɔl dɛn tin ya kin difrɛn frɔm wan pɔsin to ɔda pɔsin.

Wetin na de tin wae kin mek pɔrsin gɛt Shprintzen-Goldberg Syndrome (SGS)?

bכku tεm, di mεn kכz fכ SGS na di mכtεshכn insay wan jin we dεn kכl `(SKI)` insay wi bכdi. dis SKI jin de mek wan protin we de εp pan bכku imכtant prכsεs dεm na wi sεl dεm, lεk fכ gro, divεlכp, muvmεnt, machכ, εn day.

jכs tink, biכs dis SKI protin de insay difrεn tisu dεm na wi bכdi, if chenj de na dis jin, i kin afekt difrεn pat dεm na di bכdi. Na dat mek wi kin si difrɛn sayn dɛn na SGS.

Bɔt sɔm SGS pasɛnt dɛn nɔ gɛt di SKI jin muteshon, so sayɛnsman dɛn stil de invɛstigat ɔda pɔsibul kɔz fɔ di kɔndishɔn insay dɛn kayn kes ya.

Dis na sɔntin we kɔmɔt frɔm jɛnɛreshɔn?

Bɔrku tɛm, nɔr kin gɛt Shprintzen-Goldberg Syndrome.dis jεnεtik mכtεshכn kin apin randomly, dat na afta dεn bכn, di tεm we di εmbrayo de stej. So, bɔrku pipul dɛm wae gɛt dis sik nɔr kin gɛt dis sik na dɛn famili.

Bɔt, na smɔl tɛm nɔmɔ , dis sik kin pas frɔm mama ɔ papa to pikin. if dεn pas am, i de insay כtosom dכminant patεn. Fɔ tɔk am simpul wan, dis min se ivin if pikin gɛt kɔpi fɔ di jin we dɔn chenj frɔm wan mama ɔ papa nɔmɔ, di pikin kin stil gɛt di sik.

Wetin na di sayn dɛm fɔ Shprintzen-Goldberg Syndrome (SGS)?

Di sayn dɛm fɔ SGS kin difrɛn bad bad wan frɔm wan pɔsin to ɔda pɔsin. Sɔm pipul dɛn kin gɛt sɔm kayn sik wae nɔr kin pasmak, ɛn ɔda wan dɛn kin gɛt siriɔs sayn dɛm. Dɛn sayn ya kin afɛkt difrɛn pat dɛm na di bɔdi.

di simptom dεm we de sho se di sכkul bon dεm fכ fכm bifo tεm (`(Craniosynostosis)`):

if di bon dεm na di pikin in ed fכs tכgeda bifo tεm, i kin bi insay di bεlε כ we i bכn, wan kכndyushכn we dεn kכl ``Craniosynostosis'', simptom dεm lεk:

• Wan ed we lɔng ɛn we smɔl.
• distans bitwin di yay dεm we de go כp, di yay dεm de kכmכt bifo כ slan dכn.
• Wan ay, smɔl palata (di tɔp pat pan di mɔt).
• Wan ay ay fɔrɛst we de sho klia wan.
• Wan smɔl huk we de dɔŋ.
• Dɛn kin sɛt di yes dɛn dɔŋ pas aw i kin bi ɛn sɔntɛnde dɛn kin tɔn bak.

Ɔda tin dɛn we nɔ kin apin na di skel:

apat frכm dis, yu kin si כda chenj dεm na di skel lεk:

• Joint hypermobility.
• Klɔbfut.
• chεst we de kכmכt bifo כ sink insay (Pectus excavatum/carinatum).
• Skɔliosis we de mek pɔsin gɛt sik.
• Finga dɛn we bɛn ɔltɛm (`(Camptodactyly)`).
• I lɔng pas di nɔmal an ɛn leg dɛn.
• Lɔng, tin finga dɛn (`(Arachnodactyly)`). Sɔm pipul dɛn se dɛn tan lɛk spayda in leg.

Sɔm ɔda pipul dɛn kin gɛt sɔm kayn sik dɛn lɛk dis bak:

• di bren abnכmaliti, fכ egzampl, di wata we pasmak na di bren (hydrocephalus).
• Divɛlɔpmɛnt dilɛys ɛn mild to mɔdaret intɛlektual disabiliti.
• di dijestiv sistεm prכblεm dεm, fכ egzampl kכnstεpshכn כ dilay εmpti na di bεlε (Gastroparesis).
• bכdi כ pεlvik hεnia (`(Hεnia)`).
• Di skin kin tan, lɛk se yu kin si am tru am, ɛn i kin izi fɔ mek yu brus.
• I nɔ kin izi fɔ yu fɔ blo.
• Di wik we di mɔsul dɛn wik (`(Hypotonia)`). Dis min se di bɔdi de fil se i nɔ gɛt layf.

Di sayn dɛm we nɔ kin apin so ɔltɛm na di at:

Dɛn tin ya nɔ kin apin to ɔlman, bɔt sɔm pipul dɛn kin gɛt at sik lɛk dis:

• aortic aneurysm (we di wכl na di aorta wik).
• di bכdi de fכlכ bak biכs di aorta valv nכ de kכloz fayn fayn wan (Aortic regurgitation).
• di rכt fכ di aorta big (`(Aortic root dilation)`).
• Blɔd we de lik frɔm wan at valv (`(Mitral valv rigurgitation)`).
• di mitral valv prolaps (di kכrekt fכnshכn fכ di at in mitral valv).

Di impɔtant tin na dat nɔto ɔl di wan dɛn we gɛt SGS gɛt ɔl dɛn sik ya. Sɔm pipul dɛn kin gɛt sɔm pan dɛn, ɛn aw de sik kin tranga kin difrɛn.

Aw dɛn kin no se pɔsin gɛt Shprintzen-Goldberg Syndrome (SGS)?

Fɔ no bɔt SGS kin tranga smɔl. As a bin dɔn tɔk bifo tɛm, bikɔs na sik we nɔ kin apin so ɔltɛm ɛn dɛn kin kɔnfyus am wit Marfan Syndrome ɔ Loeys-Dietz Syndrome, sɔmtɛm dɛn kin delay fɔ no di sik.

Dɔktɔ kin mek di diagnosis bay di sayn ɛn sayn dɛn mɔ. Dis min se dɛn fɔ tek tɛm chɛk di pikin in bɔdi, aw i de gro, ɛn ɔda prɔblɛm dɛn we i gɛt wit in wɛlbɔdi. sכmtεm jεnεtik tεst kin kכnfכm di SKI jin mכtεshכn. Bɔt bikɔs pipul dɛn we nɔ gɛt dis jin muteshon kin gɛt SGS bak, naw nɔ ɔda patikyula tɛst nɔ de we go ɛp fɔ no di sik.

Aw dɛn kin trit Shprintzen-Goldberg Syndrome (SGS)?

Bɔt i sɔri fɔ no se naw, no patikyula mɛrɛsin nɔ de fɔ dis sik. Di men gol fɔ tritmɛnt fɔ Shprintzen-Goldberg Syndrome na fɔ manej di sayn dɛm ɛn ɛp di pɔsin fɔ liv gud layf as i pɔsibul.

Di tritmɛnt we dɛn kin pik kin difrɛn, i kin dipen pan di sik we di pɔsin gɛt. Na sɔm ɛgzampul dɛn ya:

• Fɔ mek i izi fɔ waka bay we yu wɛr sɔpɔt fɔ leg ɔ bak (`(braces)`).
• Yuz fidin tyub, if nid de, fɔ mek shɔ se yu gɛt di rayt it.
• Fɔ gi mɛrɛsin fɔ trit at prɔblɛm.
• Ɔpreshɔn fɔ kɔrɛkt at prɔblɛm ɔ skel prɔblɛm na di skel, spayna, ɔ chɛst.
• If di say we di briz de blok, dɛn kin mek ɔpreshɔn fɔ opin (tracheostomy) na di fɔs pat na di nɛk.

Dɔn bak, yu dɔktɔ kin tɛl yu fɔ du dɛn tɛst ya wan tɛm insay di ia ɔ ɛvri tu ia, bikɔs dɛn kin ɛp yu fɔ si if ɛni chenj de na yu sik:

• Tɛst fɔ di bon dɛnsiti.
• Echocardiogram test fɔ wach di at.
• Magnɛtik rɛsɔnans angiografi (MRA) ɔ kɔmpyuta tomografi angiografi (CTA) tɛst fɔ chɛk di blɔd vesel dɛn.
• Chek fɔ ɛni chenj na di skel (X-ray).

Dɛn kin nid wan tim fɔ spɛshal pipul dɛn fɔ trit pɔsin we gɛt Shprintzen-Goldberg Syndrome. Dis tim kin gɛt spɛshal pipul dɛn lɛk:

• Wan dɔktɔ we de mɛn di at
• Kraniofacial surgeon (dɛn we de du ɔpreshɔn pan ed ɛn fes bon) .
• Wan man we de stɔdi bɔt di jɛnɛtiks
• Bren ɛn nervɔs sistɛm ɔspitul (`(Nyurosɔjɛn)`)
• Occupational therapist - Na pɔrsin wae de ɛp pipul dɛm fɔ du ɛvride woke izi wan.
• Ɔftalmɔlɔjis - fɔ prɔblɛm dɛn we gɛt fɔ du wit di we aw pɔsin de si (e.g. myopia).
• Oral surgeon - Fɔ prɔblɛm dɛn we gɛt fɔ du wit tit ɛn jaw.
• Ɔtpidik ɔspitul (bon, jɔyn ɛn spayna ɔpreshɔn) .
• Wan dɔktɔ we de mɛn pikin dɛn
• Fisikal thɛrapist - Na pɔrsin wae de ɛp fɔ mek yu muv fayn ɛn fɔ mek yu bɔdi wok fayn.
• Sayɛnsman we de stɔdi bɔt pɔsin in maynd
• Radiologist (`(Radiologist)`) - fɔ mɛdikal imej.
• Speech therapist (`(Speech therapist)`) - fɔ di prɔblɛm dɛn we pɔsin kin tɔk.

Na wit ɔl dɛn pipul ya ɛp wi kin gi di pɔsin di bɛst tritmɛnt ɛn kia.

Yu tink se dɛn kin ebul fɔ protɛkt di sik we dɛn kɔl Shprintzen-Goldberg Syndrome (SGS)?

Naw, no we nɔ de fɔ mek dɛn nɔ gɛt di jenɛtik muteshon we de mek pɔsin gɛt Shprintzen-Goldberg Syndrome. Dis na bikɔs bɔku tɛm i kin apin bay wilful. Dɔn bak, sayɛnsman dɛn nɔ shɔ yet wetin ɔda tin dɛn kin mek i apin apat frɔm di SKI jin.

Wetin na di layf we pɔsin kin liv wit Shprintzen-Goldberg Syndrome (SGS)?

Di layf we pɔsin kin liv (prognosis) fɔ pɔsin we gɛt SGS kin dipen pan aw di sik kin tranga. Insay kes dɛm wae gɛt smɔl smɔl sik dɛm, di layf we dɛn kin liv nɔ kin afɛkt bɛtɛ. Bɔt if di bren, at, ɔ di dijestiv sistɛm afɛkt bad bad wan, di layf we pɔsin kin liv kin shɔt.

Wetin ɔda tin a fɔ aks mi dɔktɔ bɔt Shprintzen-Goldberg Syndrome (SGS)?

We yu kam fɔ no se yu pikin gɛt Shprintzen-Goldberg Syndrome, yu kin gɛt bɔku kwɛstyɔn dɛn. Dɛn kayn tɛm ya, i fayn fɔ aks yu mɛdikal tim kwɛstyɔn dɛn lɛk:

• Yu tink se dis chenj we pɔsin kin chenj in jɛnɛtiks na frɔm dɛn mama ɛn papa, ɔ na bay chans i apin?
• Us sistεm dεm na di pikin in bכdi dis kכndyushכn de afekt?
• Us tritmɛnt mi pikin nid?
• Wetin na di sayn ɔr sayn dɛm wae de mek yu nid fɔ go to dɔktɔ kwik kwik wan?
• Mi pikin go delay fɔ divɛlɔp ɔ i go gɛt prɔblɛm wit in maynd?
• Yu tink se dis sik go mek mi pikin in layf shɔt?
• Us kayn spɛshal pipul dɛn wi fɔ si? Ɔmɔs tɛm?
• Yu tink se dɛn fɔ de chɛk mi pikin in bon, in at, in blɔd vesel, ɛn in bren ɔltɛm?
• Sɔpɔt grup dɛn de wae kin ɛp wi fɔ liv wit dis sik?
• Yu kin se yu fɔ advays yu bɔt yu jɛnɛtiks ɔ fɔ tɛst yu?

Pan ɔl we Shprintzen-Goldberg Syndrome na wan sik we nɔ kin apin so ɔltɛm, i impɔtant fɔ no bɔt am ɛn go to dɔktɔ kwik kwik wan. If yu tink se yu pikin gɛt dɛn sik ya, duya go to spɛshal dɔktɔ fɔ mek dɛn no di sik kɔrɛkt wan.

Fɔ dɔn, mɛmba dis (Take-Home Message) .

Shprintzen-Goldberg Syndrome (SGS) na wan sik we nɔ kin apin so ɔltɛm we kin mek pikin in fes, in skel, in bren, ɛn sɔntɛm ivin in at chenj.Dis kin bi frɔm dɛn mama ɛn papa, ɔ i kin apin bay wilful.

Pan ɔl we no mɛrɛsin nɔ de fɔ mɛn am, difrɛn tritmɛnt dɛn de fɔ ɛp fɔ kɔntrol di sik dɛn. If wan tim we gɛt spɛshal pipul dɛn de sɔpɔt yu pikin, i go ebul fɔ liv fayn fayn wan. If yu tink se yu pikin gɛt dɛn sik ya, nɔ fred fɔ tɔk to dɔktɔ. If yu no di sik kwik kwik wan ɛn trit yu di rayt we, dat kin mek big difrɛns. Mɛmba se nɔto yu wangren de. Sɔpɔt grup ɛn tin dɛn de fɔ ɛp famili dɛn we de dil wit dɛn kayn tin ya.

` Shprintzen-Goldberg Syndrome, SGS, Jɛnɛtik Diziz, Kraniosynostosis, SKI Jin, Skel Abnɔmaliti, Divɛlɔpmɛnt Dilɛys, Rare Diziz