Yu pikin gɛt dɛn sik ya? Lɛ wi tɔk bɔt Cleidocranial Dysplasia

Yu smɔl pikin in fontanɛl dɛn let fɔ ful-ɔp? Ɔ dɛn kin fil se dɛn kɔla bon dɛn nɔ de na di say we dɛn de? Dɛn tit de kam insay let? Na nɔmal tin fɔ mek mama ɛn papa dɛn fred smɔl we dɛn si dɛn tin ya. Tide wi go tɔk bɔt Cleidocranial Dysplasia, we na wan sik we nɔ kin apin so ɔltɛm we kin mek pɔsin gɛt dɛn sik ya.

Wetin na Kleidokranial Displasia?

Fɔ tɔk am simpul wan, Cleidocranial Dysplasia na wan jenɛtik kɔndishɔn we de afɛkt di divɛlɔpmɛnt na wi bɔdi in skel sistɛm, mɔ di skel, bon, ɛn tit. Wetin kin apin na dat dɛn pat ya nɔ kin gro ɛn divɛlɔp nɔmal wan.

Pipul wae gɛt dis sik kin gɛt sɔm difrɛn kayn bɔdi . Fɔ ɛgzampul:

• di kol bon dεm (klavikul) kin nכ de divεlכp fayn כ i nכ kin de atכl. Dis kin mek sɔm pikin dɛn briŋ dɛn sholda togɛda bifo dɛn chɛst.
• Short ayt.
• sכm spεshal fes fכm dεm (e.g., brayt fכs, sכm jaw).
• di dilay we di tut dεm de divεlכp (e.g., di pikin in tit dεm we de kכmכt delay, di tεm we di tut dεm de kכmכt fכ pεrmanεnt, εkstra tit dεm, εn di tut dεm we de lכs).

Bɔt mɛmba dis, dis kɔndishɔn nɔ de afɛkt di pikin in sɛns ɔ in maynd divɛlɔpmɛnt.

Udat dɛn kin afɛkt mɔ pan dis sik? Aw i kɔmɔn?

Cleidocranial Dysplasia na wan jenɛtik disɔda we dɛn kin gɛt frɔm di mama ɛn papa ɔl tu. dis dεn kכl am כtosom dכminant patεn fכ inhεrit. Fɔ ɛgzampul, if ɛni wan pan dɛn mama ɛn papa gɛt di jenɛtik disɔda, 50% chans de fɔ mek dɛn pikin sɛf gɛt di sik.

כlso, sכmtεm pikin kin gεt dis kכndyushכn randomly, dat na, `de novo`, ivin if nכbodi na di famili nכ bin gεt dis kכndyushכn bifo.

Dis na tin we nɔ kin apin so ɔltɛm . Ɔlsay na di wɔl, na wan pan ɛvri milyɔn pikin dɛn nɔmɔ dɛn kin bɔn wit dis sik.

Wetin na di sayn dɛm fɔ Cleidocranial Dysplasia?

Nɔto ɔlman wae gɛt dis sik kin gɛt di sem kayn sik. Sɔm pipul dɛn nɔ kin gɛt bɛtɛ sayn, sɔm kin gɛt mɔ. Dɔn bak, aw di sik kin tranga kin difrɛn frɔm wan pɔrsin to ɔda pɔrsin.

De men sayn dɛm wae dɛn kin si bɔrku tɛm na:

• dilay kloz di sכft spat dεm (fontanelles) εn di sutura dεm. Di saf say dɛn we de ɔp di pikin in ed tan lɛk ol, ɛn dɛn kin tek lɔng tɛm fɔ ful-ɔp.
• di kol bon dεm (klavikul dεm) nכ de divεlכp fayn כ dεn nכ de. Dis kin mek sɔm pikin dɛn kam wit dɛn sholda dɛn bifo ɛn put dɛn togɛda.
• Prɔblɛm dɛn we gɛt fɔ du wit dɛn tit:
• Dilayed eruption of permanent tit.
• Di fact se bebi tit nɔ de fɔdɔm.
• Ekstra tit dɛn.
• Di krawd we de na di tit.
• Tit dεm we krawd εn we nכ fit togeda fayn fayn wan (malocclusion).

Apat frɔm dis, ɔda sayn dɛn we kin afɛkt di pikin in bɔdi kin bi:

• I nɔ kin izi fɔ yu fɔ blo: mɔ we yu de swɛla we yu de slip (obstructive sleep apnea).
• Skɔliosis we de mek pɔsin gɛt sik.
• Di bon dɛn we de na di an dɛn nɔ de gro fayn .
• Di ayt we de go dɔŋ ɔ we i de te fɔ gro.
• Delayed motor skills: Dis min se tin dɛm lɛk fɔ kray, fɔ waka, ɛn fɔ klaym kin delay.
• Sayn infεkshכn we kin de fכs fכs εn infεkshכn na yu yes. If infεkshכn na yu yes de kɔntinyu, i kin apin bak fɔ lɛ yu nɔ yɛri fayn.
• di bon dεnsiti we de dכn (כstiopenia כ כstioporosis).

Di impɔtant tin na dat, ivin if di mama ɛn papa gɛt dis sik, dɛn sik kin difrɛn frɔm di pikin in sik.

Wetin na di rizin fɔ dis? Lɛ wi ɔndastand di jenɛtik sayd smɔl.

di men kכz fכ Cleidocranial Dysplasia na di mכtεshכn na di jin `RUNX2`. Dis, as wi bin dɔn tɔk, kin apin randomly (de novo) ɔ i kin gɛt frɔm mama ɛn papa.

Naw lɛ wi si wetin na dɛn jin ya. Imajin se wi bɔdi tan lɛk big buk. Dis buk gɛt bɔku chapta dɛn. dεn kכl dεn chapta dεm de `kromozom`. Ɛni wan pan wi sɛl dɛn gɛt 46 pan dɛn kromozom dɛn ya, dat na 23 pe. insay dεn kromozom dεm ya na di komplit sεt fכ instrכkshכn dεm we de bil εn kכntrol wi bכdi, dat na, `DNA`. `Jin` na di sכm sכm pat dεm na da `DNA` de, lεk di sεntεns dεm na buk. Ɛni kromozom gɛt bɔku bɔku jin dɛn.

Wi kin gɛt tu kɔpi fɔ ɛni jin - wan frɔm wi mama ɛn wan frɔm wi papa. Cleidocranial Dysplasia na wan ɔtosomal dominant kɔndishɔn, we min se ivin if pikin gɛt di mutated jin frɔm jɔs wan mama ɔ papa, i inof fɔ mek di pikin gɛt di sik.

imכtant: if wan mama εn papa gεt dis `RUNX2` jin mכtεshכn, dεn pikin gεt 50% chans fכ gεt di kכndyushכn.

Aw dɛn kin no se pɔsin gɛt Cleidocranial Dysplasia?

Dɛn kin no dis sik afta dɛn bɔn di pikin. Yu dɔktɔ go chɛk yu pikin, luk fɔ di sayn dɛm, ɛn ɔda tɛst fɔ no if i gɛt di sik.

Di men tɛst dɛn we dɛn kin du fɔ dis na:

• X-ray we dɛn kin du fɔ mɛn dɛn tit.
• X-ray egzamin fɔ di bon dɛm, mɔ di skel, di kɔla bon dɛm (klavikul dɛm), ɛn di an dɛm.Dɛn ɛkstrem rayt tɛst ya kin mek di dɔktɔ si di chenj dɛn we de apin na di bon dɛn kɔrɛkt wan ɛn mek wan tritmɛnt plan we fit di pikin.
• Test fɔ di jenɛtiks. Dis na di wangren we fɔ kɔnfirm di diagnosis. Dis min se dɛn kin tek di pikin in blɔd ɛn tɛst am na lɛbɔtri fɔ si if ɛni chenj de na di pikin in DNA, in kromozom, ɔ in prɔtin. Dis jenɛtik tɛst kin no ustɛm di jin gɛt di muteshon.

Aw dɛn kin trit am? Yu tink se dɛn go ebul fɔ mɛn am kpatakpata?

Nɔr mɛrɛsin nɔr de fɔ Cleidocranial Dysplasia. Bɔt difrɛn tritmɛnt dɛn de fɔ ɛp fɔ kɔntrol di sayn dɛm ɛn fɔ ridyus di prɔblɛm wae de kam wit de sik. Di tritmɛnt plan na fɔ ɛni pikin, dat min se dɛn kin disayd di tritmɛnt bay di pikin in sayn dɛn.

Di tritmɛnt kin inklud:

• Dɛn kin kia fɔ dɛn tit: dɛn kin kia fɔ dɛn tit, dɛn kin kia fɔ dɛn tit, ɛn dɛn kin du ɔpreshɔn pan dɛn tit if nid de.
• Ɔpreshɔn fɔ prɔblɛm dɛn we gɛt fɔ du wit di bon dɛn we de gro.
• כpεrayshכn fכ prכblεm wit di sכkul εn fes bon dεm (`Craniofacial surgery`).
• We yu wɛr spɛshal ɛlmɛt ɔ sɔpɔt te di skel bon dɛn kɔba ɔl.
• Tɛrapi fɔ tɔk.
• If yu gɛt infɛkshɔn na yu yes bɔku tɛm, dɛn kin put yu yes tyub dɛn.
• If yu nɔ de yɛri fayn, wɛr tin fɔ ɛp yu fɔ yɛri.
• Fɔ gi kalsiɔm ɛn vaytamɛn D sɔpɔtmɛnt.
• If i nɔ izi fɔ yu fɔ blo we yu de slip (slip apnea), i fayn fɔ mek yu du ɔpreshɔn.

Wan we de fɔ ridyus di risk fɔ mek dis apin?

Cleidocranial Dysplasia na bikɔs ɔf wan jenɛtik muteshon, so no we nɔ de fɔ mek i nɔ apin. Bɔt if yu de op fɔ gɛt pikin, i impɔtant fɔ no bɔt di tin dɛn we de apin to yu jenɛtiks, ɔndastand di prɔblɛm we kin apin we yu pas di sik we yu gɛt frɔm yu pikin, ɛn tɔk to yu dɔktɔ bɔt aw fɔ advays yu jɛnɛtiks ɛn if nid de, fɔ tɛst yu jɛnɛtiks.

Wetin kin apin if mi pikin gɛt Cleidocranial Dysplasia? Wetin a fɔ ɛkspɛkt?

Pikin dɛm we dɛn no se gɛt dis sik kin ɛkspɛkt fɔ gɛt gud prɔgnosis. Tritmɛnt kin kɔntrol di sayn dɛm. If di pikin gɛt ɛni siriɔs simptom afta dɛn bɔn am (e.g., big big prɔblɛm wit in bon growth, i nɔ izi fɔ blo), dɔktɔ dɛn go trit am kwik, ivin du ɔpreshɔn if nid de.

Fɔ tru, fɔ trit yu tit fɔ lɔng tɛm.Dat min se, rɛdi di tit dɛn so dat dɛn nɔ go mek dɛn fil pen ɔ nɔ fil fayn we dɛn de gro. Yu mɛdikal tim go mek wan patikyula tritmɛnt plan we dɛn mek fɔ yu pikin in sik, ɛn ɛp yu pikin fɔ liv ful, wɛlbɔdi layf.

Ustɛm yu fɔ go to dɔktɔ?

If yu notis ɛni sayn fɔ Cleidocranial Dysplasia we de ambɔg yu pikin in ɛvride aktiviti ɔr wɛl bɔdi, go to dɔktɔ wantɛm wantɛm. Fɔ ɛgzampul:

• If yu gɛt pen ɔ yu nɔ fil fayn na yu mɔt ɔ yu tit.
• If yu gɛt sayn ɔ yes infɛkshɔn ɔltɛm.
• If yu fil se yu nɔ ebul fɔ yɛri fayn, ɔ nɔ ansa ivin wan simpul kɔmand.
• if di pikin let fכ rich di divεlכpmεnt maylston dεm we fit in ej (e.g. fכ tכk, waka).
• If yu si se yu de blo stɔp wan wan tɛm we yu de slip na nɛt, ɔ if yu fil taya pasmak na de.

IMPƆTANT: If i nɔ izi fɔ yu pikin fɔ blo, go na di ɔspitul imejensi rum we de nia yu wantɛm wantɛm, ɔ kɔl 1990.

Us kwɛstyɔn dɛn a fɔ aks di dɔktɔ?

We yu de tɔk to di dɔktɔ bɔt di sik we yu pikin gɛt, yu kin aks dɛn kwɛstyɔn ya:

• Mi pikin go nid fɔ du ɔpreshɔn pan in tit if dɛn tit nɔ kam insay fayn?
• Wetin a fɔ du if mi pikin let fɔ rich di divɛlɔpmɛnt maylston dɛn?
• Wetin na mi risk fɔ gɛt pikin we gɛt wan sik we dɛn kɔl jenɛtik?

Ɛnibɔdi de we gɛt nem we gɛt dis sik?

Yes, yu go mɔs sabi Gaten Matarazzo, di aktɔ we de ple Dustin Henderson insay di hit Netflix siriɔs Stranger Things. I dɔn tɔk na pɔblik se i gɛt Cleidocranial Dysplasia. Akɔdin to Gaten, i rili laki fɔ gɛt di sik bikɔs i gɛt am, ɛn i tɔk bak se i rili laki fɔ gɛt smɔl smɔl sayn dɛn. I de yuz in sɛlibret fɔ advatayz pikin dɛn we gɛt dis sik, fɔ mek pipul dɛn no bɔt di sik, ɛn ɛp fɔ brok di mistek we pipul dɛn kin tink bɔt fɔ liv wit di jenɛtik kɔndishɔn.

Fɔ dɔn, mɛsej we yu kin kɛr go na os

Pikin dεm we dεn bכn wit wan kכndyushכn we dεn kכl Cleidocranial Dysplasia kin liv bכku bכku layf. Tritmɛnt kin kɔntrol di sayn dɛm ɛn ɛp di pikin fɔ liv gladi ɛn satisfay layf.

Di tin we impɔtant pas ɔl na fɔ go to dɛntist ɔltɛm ɛn tek kia ɔf yu tit. Yu go gɛt fɔ go to di dɔktɔ smɔl pas ɔda pikin dɛn, so dat as dɛn tit dɛn de gro insay, dɛn go ebul fɔ kip dɛn we nɔ go mek yu fil fayn ɔ we nɔ go mek yu fil pen.

If yu de op fɔ gɛt pikin, i rili impɔtant fɔ go to yu pikin bɔt yu jɛnɛtiks fɔ lan bɔt di prɔblɛm we kin apin we yu pas wan jenɛtik kɔndishɔn to yu pikin.

A op se dis infɔmeshɔn go ɛp yu. If yu gɛt ɛni ɔda kwɛstyɔn, duya nɔ fred fɔ tɔk to yu dɔktɔ.

` Cleidocranial dysplasia, jεnεtik sik dεm, bon divεlכpmεnt, dεnt prכblεm, RUNX2 jin, jεnεtik tεst, pikin hεlth