Yu pikin in grow na prɔblɛm? Lɛ wi tɔk bɔt di rare kɔndishɔn we dɛn kɔl Robinow Syndrome.

Sɔntɛnde, di smɔl smɔl tin dɛn bɔt aw wi pikin dɛn de gro kin wɔri wi, nɔto so? Sɔm pikin dɛn kin divɛlɔp difrɛn we smɔl, ɔ dɛn an ɛn fut nɔ kin divɛlɔp di we aw wi kin tink. Tide wi go tɔk bɔt wan rili, rili rare jenɛtik kɔndishɔn. Dɛn kɔl dis Robinow Syndrome, ɔ ``Robinow Syndrome'' insay Inglish. Nɔ fred we yu yɛri dis, bikɔs dis nɔto sɔntin we kin apin to bɔku pipul dɛn. Bɔt, i impɔtant fɔ mek ɔlman no bɔt dis.

Wetin na di sik we dɛn kɔl Robinow Syndrome?

Fɔ tɔk am simpul wan, Robinow Syndrome na wan sik we nɔ kin apin so ɔltɛm we kin afɛkt di we aw pikin in skel ɛn ɔda pat dɛn na in bɔdi de gro. Fɔ ɛgzampul, sɔm pikin dɛn an, fut, ɛn finga dɛn kin shɔt pas aw dɛn kin shɔt. dεn kin gεt bak wan kכba spayna (dεn kin kכl dεm bak skoliosis), lכw rib kεj, fεs fכm, di jεnital abnכmaliti, εn sכmtεm dεn kin delay fכ divεlכpmεnt.

Dɔktɔ dɛn kin yuz bɔku ɔda nem dɛn fɔ dis sik. I fayn fɔ no dɛn bak:

• `Akral dysostosis wit fes εn jεnital abnכmaliti` (dat na fεs εn jεnital abnכmaliti wit prכblεm na di bon dεm na di limb dεm).
• `Fetal face syndrome` (dεn kכl am so biכs di pikin in fes lεk di fes fכ di pikin we de insay di bεlε).
• Mesomelic dwarfism-smɔl jεnitalia sεndrכm (dεn de sכt di midul pat dεm na di limb dεm εn sכm sכm jεnitalia dεm).
• `Robinow dwɔfism`.
• `Robinow-Silverman sindrom` ɔ `Robinow-Silverman-Smith sindrom`.

Pan ɔl we bɔku nem dɛn de fɔ dɛn tin ya, dɛn ɔl de tɔk bɔt di sem sik we pɔsin kin gɛt.

Yu tink se tu kayn sik de we dɛn kɔl Robinow Syndrome?

Yɛs, tu men kayn sik de we dɛn kɔl Robinow Syndrome. Dɛn na:

1. di כtosomal rεsεsiv tכp: dis kin sכmtεm sכmtεm we i kכmplikt, bכt fכ sכmtεm, fכ dis tכp fכ apin, di pikin fכ gεt di rilevεnt jεnεtik vεryushכn frכm di mama εn papa dεm tu.

2. כtosomal dominant tכp: Insay dis tכp, di sik kin apin if di rilevεnt jεnεtik chenj kכmכt frכm wan mama εn papa, כ if nyu jεnεtik chenj de apin randomly.

Dɛn tu kayn ya difrɛn frɔm dɛnsɛf:

• Akɔdin to di jenɛtik mutation we de kɔz di sik.
• Dipen pan aw pɔrsin kin gɛt dis sik.
• Akɔdin to di sayn ɛn simptom dɛm we dɛn sho.
• Dipen pan aw di sik bad.

Aw rare de Robinow Syndrome?

Dis na rili wan sik we nɔ kin apin so ɔltɛm . Akɔdin to di mɛdikal rɛkɔd, dɛn dɔn ripɔt di ɔtosomal rɛsɛsiv tayp pan less dan 200 kes dɛm ɔlsay na di wɔl. di autosomal dominant tכp dεn dכn ripot bak insay כnli lεk 50 famili dεm. So yu kin imajin aw dis nɔ kin apin so ɔltɛm.

Wetin mek di sik we dɛn kɔl Robinow Syndrome kin apin?

Di men rizin fɔ dis na we di jɛnɛtiks chenj . Na di jin dɛn de kɔntrol ɔltin na wi bɔdi. So, if ɛni chenj ɔ difrɛns de na dɛn jin ya, dɛn tin ya kin apin.

• כtosomal rεsεsiv Robin sεndr כm de kכz bay wan mכtεshכn insay wan jin we dεn kכl ROR2. Sayɛnsman dɛn biliv se di prɔtin we dis ROR2 jin de mek de ɛp wi skel, at, ɛn wi bɔdi fɔ gro. So we prɔblɛm de wit dis jin, di prɔtin nɔ de fɔm fayn fayn wan.
• כtosomal dכminant Robino sεndr כm de kכz bay mכtεshכn insay sεvεra jin dεm (FZD2, WNT5A, DVL1, DVL3). dis jin dεm de kכntribyut bak fכ prodyuz protin dεm we de rilet to di εli divεlכpmεnt fכ di εmbrayo. Bɔt dɛn nɔ ɔndastand di wok we dɛn de du gud gud wan yet.

Bɔt di strenj tin na dat, sɔmtɛm dis Robinow Syndrome kin apin ivin if dɛn nɔr fɛn ɛni jɛnɛtik chenj. Sayɛnsman dɛn stil nɔ no di rayt tin we mek dis kin apin.

Aw dɛn kin gɛt di sik we dɛn kɔl Robinow Syndrome?

Wi don tok boht tu men we fo inherit dis. Lɛ wi luk dat smɔl mɔ.

• as rεsεsiv dizכrd: Dis kin apin we pikin gεt tu kכpi dεm fכ di abnכmal jin – frכm in mama εn papa tu. Di impɔtant tin ya na dat mama ɛn papa dɛn ɔl tu kin gɛt di jin, bɔt dɛn nɔ kin gɛt ɛni sayn . I tan lɛk se dɛn gɛt di jin na dɛn bɔdi as sikrit. so, if tu dεn kayn kεriכn dεm ya gεt pikin, i gεt bכt 25% chans fכ di pikin go divεlכp כtosomal rεsεsiv Robin sεndrכm. Dis min se nɔto ɔl pikin go bɔn wit dis sik, bɔt risk de.
• Dominant disorder: Dis na we pikin gɛt di abnɔmal jin frɔm wan mama ɔ papa nɔmɔ. כ, sכmtεm, nyu jεnεtik chenj (spontaneous mutation) kin apin randomly, dat na fכ no rizin, we di pikin de divεlכp na di bεlε. I nɔ izi fɔ tɔk klia wan wetin mek dɛn kayn chenj dɛn ya kin apin we dɛn nɔ kin si.

So, sɔmtɛm pɔsin kin bi pɔsin we gɛt dis jenɛtik muteshɔn we i nɔ ivin no. Na dat mek sɔmtɛm pikin kin gɛt dis sik ivin if nɔbɔdi nɔ gɛt am na di famili.

Wetin na di sayn dɛm fɔ pikin we gɛt Robinow Syndrome?

De sayn dɛm fɔ dis kin difrɛn frɔm wan pɔrsin to ɔda pɔrsin. I dipen pan di kayn sik ɛn aw i siriɔs. as wi bin dכn tכk, di כtosom rεsεsiv tכp kin sho sכm mכr simptom dεm.

Abnɔmal tin dɛn we dɛn kin si na di fes:

Pikin dɛn we gɛt dis sik kin gɛt sɔm tin dɛn na dɛn fes. sכmtεm dεn kin kכl dεm "fetal facies," biכs dεn lεk di fes fכm fכ pikin we de insay di bεlε. Dɛn tin ya na:

• Fɔrɛst we brayt ɔ we de kɔmɔt na do.
• Dɛn kin put di yes dɛn di kayn we we nɔ kɔmɔn, fɔ ɛgzampul, dɛn kin put dɛn dɔŋ na di ed ɔ dɛn kin twist smɔl.
• wan ed we big pas nכmal (`(Macrocephaly)`) .
• di dip grov (philtrum) we de na di midul pan di כp lip de lכng εn dip.
• Ay dɛn we de kɔmɔt na do, we gɛt say dɛn we de fa fawe.
• Wan shɔt nos we dɔn tɔn ɔp.
• Wan smɔl chin ɔ chin.
• Wan mɔt we shep lɛk tri an.
• Wan wayd ɔ sink nasal brij (di tap pat pan di nos).

Di tin dɛn we yu si na di skel:

Dis na di men chenj dεm we dεn kin si pan bon dεm:

• Wan sik we dɛn kɔl skɔliosis (skɔliosis) .
• Growth retardation ɛn shɔt ayt.
• Prɔblɛm dɛn we gɛt fɔ du wit dɛn tit. Fɔ ɛgzampul, di tit we krawd, di gam we de gro pasmak, ɔ di palata we skata.
• Di rib dɛn kin stɔp togɛda, ɔ sɔm rib dɛn nɔ kin de.
• di bon dεm na di an εn leg dεm de sכt.
• Fɔ shɔt finga dɛn (an ɛn fut) (`(Brachydactyly)`) .

Ɔda sayn dɛn we de sho se yu gɛt dis sik:

Apat frɔm dis, yu kin si ɔda tin dɛn:

• Divɛlɔpmɛnt dilɛys dɛn . Bɔt di impɔtant tin fɔ tɔk ya na dat bɔku pikin dɛn we gɛt Robinow Syndrome nɔ kin gɛt disabled intɛlektual disabiliti leta na layf. Dis min se di we aw dɛn kin lan kin bi nɔmal tin.
• Kidni ɔ at prɔblɛm.
• Di jɛnɛral dɛn we nɔ de divɛlɔp. Sɔntɛnde, dɛn kin put di bɔdi we de na di bɔdi di kayn we we go mek i nɔ izi fɔ no klia wan if di pikin na man ɔ uman.

Wetin na di Osteosclerotic Robinow Sindrom?

pan sכm pipul dεm we gεt כtosomal dominant Robinow sεndrכm (we dεn kכz spεshal wan bay wan mכtεshכn na di DVL1 jin), dεn bon dεm kin tik כ tranga pas nכmal . Dɔktɔ dɛn kin kɔl dis sik Osteosclerotic Robinow Syndrome.

Aw dɛn kin no se pɔsin gɛt Robinow Syndrome?

Bɔku tɛm, dɛn kin no dis sik bay we dɛn chɛk di pikin in bɔdi . We dɔktɔ tek tɛm chɛk di pikin, dɛn go chɛk fɔ si if i gɛt di sik dɛn we wi bin dɔn tɔk bɔt.

"O, dɔktɔ, mi pikin in fes luk difrɛn smɔl frɔm ɔda pikin dɛn... In limb dɛn kin fil shɔt smɔl..." Sɔm mama ɛn papa dɛn kin fɔs kam wit tin dɛn lɛk dis.

כltu, fכ kכnfכm di diagnosis, dεn nid fכ du spεshal jεnεtik tεst (`(Molecular genetic testing)`) fכ si if jεnεtik chenj de . Dɛn kin du dis na di lɛbɔraytri bay we dɛn de tɛst:

• Wan blɔd sɛmpul
• Wan sampul fɔ saliva
• Wan swab na di chɛst
• Sɔntɛnde, na smɔl pat pan di skin

If pɔsin na yu famili gɛt Robinow Syndrome...

If na so i bi, dכkta dεm kin advays fכ tεst di pikin fכ dis kכndyushכn we i bεlε. Fɔ dis:

• wan tεst we dεn kכl ``Chorionic villus sampling'' dεn kin du am bay we dεn tek sכm sכm sεmpl frכm di plasεnta.
• כda we de fכ du jεnεtik tεst (`(Jεnεtik amniocentesis)`) we involv fכ tek sεmpl fכ di amniotic fluid we de rawnd di pikin.

Bikɔs dɛn tɛst ya kin kɔmpleks smɔl, dɛn kin jɔs du dɛn bay di advays we dɔktɔ gi dɛn.

Aw dɛn kin trit pikin we gɛt Robinow Syndrome?

Di tritmɛnt fɔ dis kin difrɛn frɔm wan pɔsin to ɔda pɔsin . I dipen pan di pikin in sayn dɛm. Bɔku tɛm, wan tim we gɛt spɛshal pipul dɛn we kɔmɔt na difrɛn say dɛn go trit di pikin. Dis tim kin gɛt:

• Cardiologist – if yu gɛt at prɔblɛm.
• Dɛntist, ɔtodɔntist, ɔ ɔral sajin – fɔ tit ɛn jaw prɔblɛm.
• εndokrinolojist – Fכ כmon prכblεm dεm we de rilet to di jεnital divεlכpmεnt.
• Pikin dɛm – Chɛk pan di pikin in jenɛral wɛlbɔdi.
• Fyzikal thεrapist – impruv muvmεnt εn bכdi fכnshכn.
• Ɔtpidik ɔspitul – fɔ prɔblɛm wit bon ɛn jɔyn.

Dɛn kin du dɛn tin ya as tritmɛnt:

• Put spɛshal bandej ɔ kɔst fɔ sɔpɔt di bon dɛn we dɔn afɛkt.
• Yuz spɛshal tin fɔ ɛp yu tit (brɛs ɛn ɔda tin dɛn we yu kin yuz fɔ mɛn yu tit) fɔ kɔrɛkt yu tit prɔblɛm.
• Gi ɔmon tɛrapi fɔ mek di uman in bɔdi gro ɔ divɛlɔp.
• Du spɛshal ɛgzampul dɛn fɔ mek di bɔdi strɔng ɛn fɔ mek di bɔdi wok fayn.
• Ɔpreshɔn fɔ kɔrɛkt di tin dɛn we nɔ de apin na di skel ɔ di say dɛn we pɔsin kin bɔn.

Apat frɔm ɔl dis, dɔktɔ dɛn kin advays pipul dɛn bak we gɛt Robinow Syndrome ɛn dɛn famili fɔ go to advays bɔt dɛn jɛnɛtiks . Dis kin ɛp dɛn fɔ ɔndastand di sik gud gud wan, aw dɛn kin gɛt am frɔm dɛn mama ɛn papa, ɛn wetin dɛn fɔ tek tɛm wit we dɛn go bɔn pikin dɛn tumara bambay.

Yu tink se dɛn kin ebul fɔ avɔyd di sik we dɛn kɔl Robinow Syndrome?

Infakt, pas nɔmɔ di man ɛn in wɛf du di jenɛtik tɛst bifo dɛn put dɛn bɔdi na di bɔdi , no we nɔ de fɔ mek dɛn nɔ gɛt di jenɛtik mutation we de mek dɛn gɛt Robinow Syndrome. If yu ɔ sɔmbɔdi na yu famili gɛt dis sik, di bɛst tin fɔ du na fɔ tɔk to dɔktɔ ɔ pɔsin we de advays yu bɔt yu jɛnɛtiks. Dɛn kin advays yu bɔt di chans fɔ pas di kɔndishɔn to di jɛnɛreshɔn dɛn we gɛt fɔ kam.

Wetin na di fiuja fɔ pɔrsin wae gɛt Robinow Syndrome?

De prognosis fɔ pɔrsin wae gɛt dis sik kin difrɛn frɔm pɔrsin to ɔda pɔrsin . I dipen pan di sayn dɛm ɛn aw dɛn kin tranga. Prɔblɛm dɛn we nɔ kin apin na yu at ɛn kidni kin mek yu layf shɔt. Bɔt bɔku pipul dɛn kin liv nɔmal layf wit gud mɛrɛsin ɛn sɔpɔt.

If mi pikin gɛt Robinow Syndrome, wetin ɔda tin a fɔ aks di dɔktɔ?

If dɛn no se yu gɛt dis sik na yu pikin, yu kin aks di dɔktɔ dɛn dɛn kwɛstyɔn ya. Dɛn tin ya go rili ɛp yu:

• "Dɔkta, us kayn Robinow Syndrome mi pikin gɛt? " (Dat min se, na ɔtosomal rɛsɛsiv ɔ dominant).
• " Wi fɔ tink bɔt ɔpreshɔn fɔ kɔrɛkt di tin dɛn we nɔ de na di bon ɔ di bɔdi we gɛt bɔdi? "
• "Mi pikin go gɛt divɛlɔpmɛnt dilɛys ?"
• "Yu gɛt at ɔ kidni prɔblɛm ?"
• " Us kayn spɛshal pipul wi fɔ si? Aw ɔltɛm wi fɔ si dɛn?"
• " Us simptom a fɔ wɔri mɔ bɔt? A fɔ kɔntakt yu if a si ɛnitin lɛk dat?"
• " Dis kɔndishɔn go mek mi pikin in layf shɔt? "
• "Eni sopot grup de we go helep wi liv wit dis situeshɔn?"
• "Yu rikɔmɛnd fɔ gi yu jenɛtik kɔyl ?"
• "I fayn fɔ mek dɛn du jenɛtik tɛst fɔ di ɔda pipul dɛn na wi famili?"

Yu fɔ mɛmba dɛn kwɛstyɔn dɛn ya. We yu aks dɛn, dat go ɛp yu fɔ gɛt di bɛst tritmɛnt ɛn sɔpɔt fɔ yu ɛn yu pikin.

Fɔ dɔn, tin dɛn fɔ mɛmba (Take-Home Message) .

Robinow Syndrome na wan sik wae de kam wit jεnεtiks wae nɔr kin bɔrku. I kin mek yu bon dɛn nɔ de wok fayn, yu fes difrɛn, yu gɛt prɔblɛm wit yu bɔdi, ɛn ɔda prɔblɛm dɛn. Nɔ wɔri , dis nɔto sɔntin we kin apin to bɔku pipul dɛn.

Bɔt if yu tink se yu pikin gɛt ɛni wan pan dɛn sik ya, go to dɔktɔ we sabi du di wok wantɛm wantɛm . Spɛshal pipul dɛn kin kɔrɛkt sɔm pan di tin dɛn we nɔ kin apin na di skel ɛn in bɔdi ɛn ɛp yu pikin fɔ wok fayn fayn wan. If dɛn de kia fɔ dɛn pikin ya fayn fayn wan, dɛn de trit dɛn bɔdi fayn, ɛn dɛn famili lɛk dɛn ɛn sɔpɔt dɛn, dɛn go ebul fɔ du ɔl wetin dɛn ebul fɔ du.

` Robino sindrom, jεnεtik sik dεm, pikin divεlכpmεnt, bon dεm we de fכm, fes fכm, jεnεtik kכnsεl, sik dεm we nכ kin apin