Wetin na di sik we dɛn kɔl Crouzon Syndrome? Wi go tɔk bɔt am?

Yu dɔn ɛva want fɔ no smɔl ɔ wɔri bɔt aw yu smɔl pikin in ed ɔ in fes shep? Sɔntɛnde, sɔm tin dɛn kin apin we di bon dɛn na di pikin in skel kin fuz togɛda tumɔs kwik. Wan pan dɛn kayn tin ya we nɔ kin apin so ɔltɛm bɔt we impɔtant fɔ no bɔt na Crouzon Syndrome. Lɛ wi tɔk bɔt dis simpul we we yu go ɔndastand.

Wetin na di sik we dɛn kɔl Crouzon Syndrome?

Fɔ tɔk am simpul wan, di sik we dɛn kɔl Crouzon syndrome na wan sik we nɔ kin apin so ɔltɛm . Wetin kin apin na dat di fayv jɔyn dɛn we de kɔnɛkt di bon dɛn na yu pikin in skel, we dɛn kɔl sutura, kin jɔyn togɛda bifo tɛm . we di bon dεm na di sכkul fכs tכgeda tu kwik, di pikin in ed nכ de gεt inof rum fכ gro fayn fayn wan. Dɔktɔ dɛn kin kɔl dis kraniosynostosis. Dis kin mek di pikin in ed ɛn in fes luk difrɛn. Crouzon syndrome na jכs wan pan di nכmba כf kraniofacial disorder dεm we de afekt di divεlכpmεnt fכ di pikin in sכkul εn fes.

Udat kin gɛt dis sik?

Krozon sindrom na wan sik wae de kam pan pɔrsin in jɛnɛtiks, so e kin afɛkt ɛnibɔdi. i de kכz fכ chenj (mכtεshכn) insay wan jin, we min se di jin nכ de wok fayn fayn wan. Krozon sindrom kin kɔmɔt frɔm mama ɛn papa, ɔ i kin apin as nyu jɛnɛtik muteshon.

If yu pikin gɛt di sik we dɛn kɔl Crouzon syndrome, dat min se na wan pan di mama ɛn papa nɔmɔ gɛt di jin we dɔn chenj ɛn i pas am to di pikin. dis dεn kכl am ``autosomal dominant'' inhεritεns. Mama ɔ papa we gɛt Crouzon syndrome gɛt 50%, ɔ 50%, chans fɔ pas di sik to dɛn pikin. Tink bɔt am lɛk di chans fɔ flip kɔyn ɛn gɛt ed.

sכmtεm, ivin if di mama εn papa nכ gεt dis kכndyushכn, wan spontan jεnεtik mכtεshכn kin apin na di mama in eg כ di papa in sεl dεm we di pikin de divεlכp, we kin mek i gεt Krozon sεndrכm. If na so i bi, i nɔto sɔntin we di mama ɛn papa gɛt. εspεshali if papa ol pas 40-45 ia, chans de fכ mek nyu jεnεtik chenj dεm na in sεl dεm.

Aw kɔmɔn tin na di sik we dɛn kɔl Crozon syndrome?

Krozon sindrom na wan sik we nɔ kin apin so ɔltɛm . I kin afɛkt lɛk wan pan ɛvri 60,000 pikin dɛn we dɛn jɔs bɔn. Bɔt di sik we dɛn kɔl Crozon syndrome na di kayn we we dɛn kin gɛt mɔ kraniosynostosis. Krozon sεndrכm de akכnt fכ bכt 4.8% pan כl di kεys dεm fכ kraniosynostosis.

Wetin na di sayn dɛm wae de sho se yu gɛt Crozon syndrome?

Crouzon syndrome kin mɔs afɛkt di we aw yu pikin in skel ɛn in fes bon (craniofacial bones) de divɛlɔp. Di sayn dɛm na di bɔdi fɔ dis sik kin rili smɔl pan sɔm pikin dɛm, ɛn i kin tranga smɔl pan ɔda wan dɛm. Dɛn sayn ya na:

• Dɛn kin put di yay dɛn tu fa (hypertelorism).
• di apinεns fכ di yay dεm we de kכmכt (proptosis). I tan lɛk se di yay dɛn dɔn big.
• Krɔs yay (strabismus).
• Fɔrɛst we de kɔmɔt na do.
• Di nos smɔl ɛn i shep lɛk mɔt.
• di jaw we de dכn nכ de divεlכp fayn.
• Sɔntɛnde , di lip ɛn/ɔ di palata kin skata .

Us prɔblɛm dɛn dis kin mek?

Apat frɔm di chenj dɛm we de apin na in bɔdi we di sik we dɛn kɔl Crouzon syndrome kin mek, yu pikin kin gɛt sɔm prɔblɛm dɛn. I impɔtant bak fɔ no bɔt dɛn tin ya:

• Prɔblɛm fɔ si: di we aw di yay dɛn de si kin afɛkt di we aw di yay dɛn de ɔ we di prɛshɔn we de go ɔp na di skel.
• Dɛn tit prɔblɛm: Bikɔs ɔf di we aw di jaw de divɛlɔp, prɔblɛm wit di we aw di tit dɛn de kam insay ɛn aw dɛn de posishun kin apin.
• Yu nɔ de yɛri fayn: yu nɔ de yɛri fayn bikɔs ɔf di ifɛkt dɛn we di strɔkchɔ dɛn we de insay di yes gɛt.
• I nɔ kin izi fɔ yu fɔ blo: We yu chenj di say dɛn we yu de yuz na yu nos ɛn yu trot, dat kin mek i nɔ izi fɔ yu fɔ blo, mɔ we yu de slip.
• Hydrocephalus: Dis na di kכndyushכn we di wata we de rawnd di bren (CSF) de bכku εn i de mek di prεshכn insay di sכkul bכku.
• Na smɔl tɛm nɔmɔ, dɛn kin gɛt prɔblɛm wit dɛn maynd: Pan ɔl we bɔku pikin dɛn kin gɛt disabiliti fɔ lan.

Wetin kin mek pɔsin gɛt di sik we dɛn kɔl Crozon syndrome?

di men kכz fכ Crouzon sεndrכm na di jεnεtik chenj (mכtεshכn) na di jin we dεn kכl `FGFR2` . fכ simpul wan, dis `FGFR2` jin de instrכkt wi bכdi fכ mek wan spεshal protin. dεn kכl dat protin `(fibroblast growth fכktכ rεsεptכr)`. di wok we dis protin de du na fכ εp di pikin in sεl dεm we nכ machכ fכ tכn to bon sεl dεm we dεn stil de na di bεlε.

כltu, we di FGFR2 jin gεt mכtεshכn, di FGFR2 protin de bi כva aktv. Dɔn, dɛn sɛl dɛn de we nɔ machɔ kin bigin fɔ tɔn to bon sɛl dɛn kwik kwik wan . Dis kin mek di pikin in skel bon dɛn kin jɔyn togɛda bifo tɛm.

Aw dɛn kin no se pɔsin gɛt di sik we dɛn kɔl Crozon syndrome?

Dɛn kin no dis sik we dɛn bɔn yu pikin, we dɔktɔ dɛn kin chɛk di pikin. Di dɔktɔ go du wan kɔmplit bɔdi ɛgzamin fɔ di pikin . di pikin in ed εn fes kin gεt di kraniofeshal kכntribyushכn dεm we wi bin dכn tכk bכt, we kin sho se di sik we dεn kכl Crouzon syndrome. Di dɔktɔ go aks yu bak if ɛnibɔdi na yu famili dɔn gɛt dis sik.

Us tɛst dɛn kin du fɔ no if pɔsin gɛt di sik?

Di dɔktɔ kin du sɔm ɔda tɛst dɛn fɔ no if pɔsin gɛt di sik we dɛn kɔl Crouzon syndrome. Di men wan dɛn na:

• CT skan (Computed Tomography - CT scan): dis kin tek kכros-sekshכnal imej dεm fכ di strכkchכ dεm we de insay di pikin in bכdi. Dis kin ɛp fɔ si tin dɛn lɛk di we aw di bon dɛn na di skel arenj ɛn aw di bren de.
• MRI skan (Magnetic Resonance Imaging - MRI scan): dis kin tek ditayl kכros-sekshכnal imej dεm bak fכ di pikin in כgan dεm εn tisu dεm. Dis impɔtant fɔ mek yu ɔndastand di bren ɛn ɔda sɔft tisu dɛn fayn fayn wan.
• mכlikul jεnεtik tεst: dεn jεnεtik tεst dεm ya kin kכrekt fכ no if mכtεshכn dεm de na di FGFR2 jin we wi bin dכn tכk bכt we de mek Crouzon sεndrכm.

Aw dɛn kin trit di sik we dɛn kɔl Crozon syndrome?

Yu pikin go gɛt tritmɛnt frɔm wan tim we gɛt dɔktɔ ɛn wɛlbɔdi wokman dɛn we gɛt spɛshal trenin fɔ di prɔblɛm dɛn we gɛt fɔ du wit kranio fes . I tan lɛk kriket tim. Ɛnibɔdi gɛt in yon wok, bɔt ɔlman de wok togɛda fɔ mek yu pikin gɛt di bɛst tin fɔ du. Dis tim kin gɛt:

• Yu pikin in dɔktɔ we de mɛn pikin dɛn .
• Wan dɔktɔ we de mɛn nyuro .
• Dɔktɔ we spɛshal pan plastic ɔpreshɔn (plastik ɔpreshɔn) .
• Wan spɛshal dɔktɔ we de mɛn dɛn tit .
• Wan pɔsin we de advays pipul dɛn bɔt dɛn jɛnɛtiks .
• Wan soshal woka .
• Wan spɛshal pɔsin na di yes, nos ɛn trot (ENT dɔktɔ - otolaryngologist) .
• Wan dɔktɔ we de mɛn pipul dɛn we de yɛri .
• Wan dɔktɔ we de mɛn yu yay .

Ɔpreshɔn (ɔpareshɔn) .

Di men tritmɛnt fɔ di sik we dɛn kɔl Crouzon syndrome na ɔpreshɔn . Na wan dɔktɔ we de mɛn pipul dɛn na nyuro kin du dis ɔpreshɔn. Dɛn tink se di ɔpreshɔn go:

• Fɔ mek di rayt ples fɔ di pikin in bren we de gro .
• fכ ridyus di prεshכn we nכ nid insay di sכkul.
• Fɔ mek di pikin in ed luk ɛn shep fayn to sɔm mak .

Sɔntɛnde, i kin nid fɔ du pas wan ɔpreshɔn, i kin dipen pan di pikin in kɔndishɔn.

Ɛlmɛt Tɛrapi

Bɔt nɔto ɔl pikin dɛn nid ɔpreshɔn . If yu pikin gɛt wan kayn sik we nɔ gɛt bɛtɛ sik we dɛn kɔl Crouzon syndrome, di dɔktɔ kin tɛl yu fɔ gi yu ɛlmɛt tritmɛnt.Dɛn kin rikɔmɛnd am. Wetin kin apin pan dis na we dɛn kin gi di pikin wan spɛshal mɛdikal ɛlmɛt. Dis ɛlmɛt kin kɔrɛkt di pikin in skel smɔl smɔl as tɛm de go.

Aw fɔ kɔntrol di sayn dɛm?

Apat frɔm di tritmɛnt, di dɔktɔ dɛn we de wok fɔ yu pikin kin tɛl yu fɔ yuz difrɛn ɔda tritmɛnt dɛn we go mek yu pikin gɛt bɛtɛ layf.

• Saykososial tɛrapi: Saykososial thɛrapist dɛm (bɔku tɛm na soshal woka dɛm) kin gi yu, yu pikin, ɛn ɔda pipul dɛm na yu famili di saykolojik sɔpɔt we dɛn nid. Da sɔpɔt de rili impɔtant we yu de gɛt prɔblɛm dɛn lɛk dis.
• Jɛnɛtik advays: Jɛnɛtik advaysa dɛn kin kɔnfirm if yu pikin gɛt di sik, ɛn dɛn kin advays yu bɔt di sik, wetin fɔ ɛkspɛkt fɔ go bifo, ɛn aw i kin afɛkt ɔda pipul dɛn na yu famili.
• Fyzikal tritmɛnt: Di wan dɛn we de mɛn di pikin kin ɛp fɔ mek di pikin in mɔsul ɛn tɛndon dɛn strɔng ɛn fɔ mek i ebul fɔ du ɛksɛsayz fɔ mek i ebul fɔ chenj.
• Okupeshכnal tεrapi: Okyupashכnal tεrapist dεm de εp fכ divεlכp di pikin in fayn mכtalman skil dεm (e.g., fכ grap sכm sכm tin dεm), fכ si tin, fכ no di tin dεm we i de tink, εn di sεns prכsεsin.
• Spich therapy: Spich thrapist dεm de εp pipul dεm fכ win prכblεm dεm wit tכk, langwej, kכmyunikeshn, εn fכ it εn swεl.

Yu tink se dɛn kin ridyus di risk fɔ bɔn pikin we gɛt Kroson sindrom?

Bikɔs Crozon syndrome na di rizin fɔ wan rare genetic mutation, rili no we nɔ de fɔ mek di sik nɔ apin . I kin apin bak randomly.

di tin we impɔtant pas ɔl na fɔ ɔndastand se dis nɔto sɔntin we yu bin dɔn du ɔ nɔ bin du bifo ɔ we yu gɛt bɛlɛ.

Bɔt if mama ɔ papa we gɛt Kroson sindrom want fɔ mek dɛn pikin nɔ gɛt di sik, dɛn kin yuz in vitro fertilization (IVF) teknɔlɔji wit tɛst fɔ di embryo . na de, chans de fכ pik εmbrayo dεm we gεt hεlth εn put dεm na di uterus.

If yu de op fɔ gɛt pikin tumara bambay, mɔ if yu gɛt Crouzon syndrome ɔ if sɔmbɔdi na yu famili gɛt dis sik , i go fayn fɔ tɔk to yu dɔktɔ bɔt aw fɔ tɛst yu jɛnɛtiks. Jɛnɛtik tɛst kin asɛs yu risk fɔ gɛt pikin wit di jenɛtik kɔndishɔn.

Wetin a kin ɛkspɛkt if mi pikin gɛt Crouzon syndrome?

Wetin go apin to pikin we gɛt Croson syndrome tumara bambay?I dipen pan aw dɛn kin no di sik kwik kwik wan ɛn aw di tritmɛnt kin wok fayn. yu pikin go nid mεdikal atεnshכn kwik kwik wan εn kכntinyu fכ mεdikal monitarin (fכlכ-ap).

Bɔt if dɛn bigin fɔ trit yu pikin kwik kwik wan, yu pikin kin liv nɔmal layf. Pan ɔl we sɔm kin delay fɔ divɛlɔp, bɔku pipul dɛn we gɛt Kroson sindrom gɛt nɔmal IQ. So i impɔtant fɔ mek wi kɔntinyu fɔ gɛt op.

Wetin na di difrɛns bitwin di sik we dɛn kɔl Crozon syndrome, Apert syndrome, ɛn Pfeiffer syndrome?

I kin mek yu kɔnfyus smɔl fɔ yɛri dɛn nem ya, bɔt i fayn fɔ no di difrɛns we nɔ klia bitwin dɛn.

• Apert Syndrome: lεk Crouzon syndrome, Apert syndrome na wan kכndyushכn we di bon dεm na di sכkul de fכs tכgeda (craniosynostosis) bikoz fכ wan mכtεshכn na di FGFR2 jin. Bɔt di sik we dɛn kɔl Apert syndrome nɔ kin rili bad lɛk di sik we dɛn kɔl Crouzon syndrome. apat frכm di kraniofacial kכntribyushכn dεm fכ Crouzon syndrome, pikin dεm we gεt Apert syndrome kin gεt fכs כ wεb finga dεm εn fut dεm. Di finga dɛn kin shɔt bak, ɛn di big tɔ ɛn di big fut kin big ɛn wayd. Intɛlektual disabiliti bak kin bɔku pan Apert syndrome pas Crouzon syndrome.

• Pfeiffer Syndrome: Dis na kכndyushכn bak we dεn kכl kraniosynostosis, we de kכz fכ wan mכtεshכn na di FGFR2 (εn i kin bi fכ FGFR1) jin. Tri men kayn Pfeiffer syndrome de, ɛn ɛni wan pan dɛn kin gɛt difrɛn digri fɔ siriɔs. Bebi dεm we gεt Pfeiffer syndrome gεt bak di ed εn fes fכm dεm fכ Crouzon syndrome. Apat frɔm dat, shɔt, brayt finga ɛn fut finga dɛn na wan tin we difrɛn. pan tayp 2 εn 3 fכ Pfeiffer syndrome, di ed εn fes fכm dεm de mכr siriכs. Prɔblɛm na yu maynd ɛn nervɔs sistɛm bak kin bɔku pan dɛn kayn tin ya.

We yu yɛri se yu pikin gɛt wan sik we nɔ kin apin so ɔltɛm we yu gɛt jɛnɛtiks, dat kin mek yu at pwɛl ɛn i kin mek yu fred. Dat na tin we nɔmal.

Bɔt di tin we impɔtant pas ɔl fɔ mɛmba na dat, di sik we dɛn kɔl Crouzon syndrome nɔto wan sik we kin mek pɔsin in layf de pan denja ɔ we kin kil pɔsin.

Wan tim we gɛt spɛshal dɔktɔ dɛn go wok wit yu ɛn yu pikin fɔ gi di bɛst tin we go apin. If dɛn no di sik kwik kwik wan ɛn trit am fayn, yu pikin go mɔs liv nɔmal, wɛlbɔdi layf.

Faynal Mɛsej fɔ Tek-Hom

Okay, so na sɔm pan di impɔtant tin dɛn we yu nid fɔ mɛmba frɔm wetin wi dɔn tɔk bɔt:

• Crouzon Syndrome na wan jεnεtik kכndyushכn we nכ kin apin we dεn kin kכl di bon dεm na di pikin in sכkul fכ fכm kwik kwik wan.
• DisI kin kɔmɔt frɔm mama ɛn papa ɔ i kin kɔmɔt frɔm wan chenj we de apin na di jɛnɛtiks.
• yu kin si patikyula fes fכm dεm lεk di yay dεm we de fa, di yay dεm we de kכmכt, εn wan fכs fכs fכ fכd na dis.
• Dɛn kin no if pɔsin gɛt di sik bay we dɛn de chɛk dɛn bɔdi, skan, ɛn tɛst di jɛnɛtiks .
• Ɔpreshɔn na di men tritmɛnt, bɔt sɔntɛnde dɛn kin yuz ɛlmɛt tritmɛnt bak.
• Di sɔpɔt we wan tim we gɛt spɛshal dɔktɔ dɛn de gi ɛn difrɛn tritmɛnt dɛn fɔ mɛn di pikin rili impɔtant fɔ mek di pikin in layf bɛtɛ.
• Dis nɔto yu fɔlt, na jɔs ɔda tin.
• If dɛn no di pikin kwik kwik wan ɛn trit am, i kin liv nɔmal layf ɛn bɔku tɛm i kin gɛt nɔmal sɛns.

A op se dis infɔmeshɔn go ɛp yu. If yu gɛt ɛni kwɛstyɔn ɔ tin we de mɔna yu, nɔ ɛva shem fɔ tɔk to dɔktɔ.

` Krozon sindrom, jεnεtik sik, skabi, pikin sik, כpεrayshכn, fes difכmiti, FGFR2 jin