Nager Syndrome: Yu smɔl pikin fɔ no bɔt dis sik we nɔ kin apin so ɔltɛm?

Sɔntɛnde we yu luk di pikin we dɛn jɔs bɔn, yu kin notis smɔl chenj dɛn na dɛn fes ɛn an. Na nɔmal tin fɔ mek yu, as mama ɔ papa, fil bad bad wan we yu si tin dɛn lɛk dis. Tide wi go tɔk bɔt wan pan dɛn kayn tin ya we nɔ kin apin so ɔltɛm, bɔt we impɔtant fɔ mek wi no bɔt. Dat na di sik we dɛn kɔl Nager syndrome .

Wetin rili na Nager syndrome?

Fɔ tɔk am simpul wan, Nager syndrome na wan sik we nɔ kin apin we pɔsin kin gɛt we i kam pan jɛnɛtiks . Dɛn kin kɔl am bak akrofacial dysostosis tayp 1, Nager tayp . di pikin we gεt dis kכndyushכn de bכn wit sכm pan di bon dεm na in fes, an, εn fכs an dεm we nכ de divεlכp fayn. Tink bɔt am lɛk se dɛn bon ya nɔ bin de divɛlɔp fayn we di pikin bin de na di bɛlɛ.

biכs fכ dis we di bon nכ de gro, di pikin kin gεt sכm sayd ifekt dεm. Fɔ ɛgzampul, i kin apin we pɔsin nɔ de yɛri fayn bikɔs sɔm pat dɛn na di yes nɔ fɔm fayn. So, tin dɛn lɛk fɔ lan fɔ tɔk kin delay. Bɔt, di tin we impɔtant pas ɔl na dat Nager syndrome nɔ kin afɛkt di pikin in kɔgnitiv divɛlɔpmɛnt . Dat min se prɔblɛm nɔ de wit di pikin in bren. Dis na tin we rili kɔrej mama ɛn papa dɛn.

Udat dɛn kin afɛkt mɔ pan di sik we dɛn kɔl Nager syndrome?

biכs dis na jεnεtik kכndishכn , enibodi kin afekt dis kכndyushכn if wan patikyula jin na di pikin in DNA chenj we dεn de divεlכp na di bεlε. Dis min se i nɔ kin izi fɔ no udat go gɛt am.

Tu men we dɛn de we pikin kin gɛt dis kayn tin:

1. Inhɛritɛshɔn frɔm mama ɛn papa: Sɔntɛnde, pikin kin gɛt dis mutated jin frɔm di mama ɔ di papa.

2. Nyu jεnεtik mכtεshכn: Dis na wetin kin apin bכku tεm. Dat min se ivin if di mama ɛn papa ɔl tu nɔ gɛt dis prɔblɛm wit in jɛnɛtiks, di pikin kin gɛt dis jɛnɛtik chenj. Dis na tin we kin apin bay wilful.

Yu kin ɛksplen smɔl mɔ bɔt aw dis kin afɛkt di jenɛtiks?

Imajin se pikin gɛt dis sik frɔm in mama ɛn papa.

• Sɔntɛnde, ivin if na wan mama ɔ papa nɔmɔ gɛt di mutated gene (autosomal dominant), di pikin kin gɛt am. Dis min se if di mama ɔ papa gɛt di jin ɛn i pas to di pikin, i go mɔs bi se di pikin sɛf gɛt di sik.
• כda kes dεm, dεn tu mama εn papa kin bi kכriכs fכ di mutated jin (autosomal recessive) . Kεriכn min se dεn nכ gεt di simptom dεm, bכt dεn gεt di jin we dεn afekt na dεn DNA. So, if di mama ɛn papa ɔl tu na di wan dɛn we de kɛr di pikin, ɛn di pikin gɛt di mutated jin frɔm dɛn ɔl tu, di pikin kin gɛt Nager syndrome.

Naw imajin se bɔku pikin dɛn na di sem famili gɛt Nager syndrome, bɔt mama ɔ papa nɔ gɛt dis sik. If na so i bi, i go bi se di mama ɛn papa ɔl tu na di wan dɛn we de kɛr di tin dɛn, lɛk aw a bin dɔn tɔk, ɛn di jin kin pas to di pikin dɛn insay wan ɔtosomal rɛsɛsiv patɛn.

Aw kɔmɔn dis sik wae dɛn kɔl Nager syndrome?

Fɔ tru, Nager syndrome na wan sik we nɔ kin apin so ɔltɛm . No rayt statystik nɔ de bɔt aw i kɔmɔn. Dat min se i at fɔ tɔk klia wan ɔmɔs pipul dɛn na di wɔl gɛt am. Bɔt i pas 100 pipul dɛn we dɛn dɔn ripɔt na di buk dɛn we dɛn kin rayt bɔt mɛrɛsin. So yu kin imajin aw i nɔ kin bɔku. So, i nɔ sɔprayz fɔ no se yu nɔ yɛri bɔt am ɔ si am.

Wetin na di sayn dɛm we pɔsin kin si fɔ pikin we gɛt Nager syndrome?

Dis sik kin afɛkt mɔ di we aw yu pikin in fes, in an, ɛn in ɔp an dɛn kin gro. Lɛ wi tek tɛm luk sɔm pan di kɔmɔn sayn dɛm:

Di tin dɛn we pɔsin kin si na di fes, an ɛn an:

• Klεft palata: Dis na we di כp palata insay di pikin in mכt nכ de kכloz fayn fayn wan.
• Clinodactyly ɔ syndactyly: i kin tan lɛk se di finga dɛn dɔn bɛn smɔl, ɔ i kin tan lɛk se sɔm pan di finga dɛn dɔn fuz togɛda bay di skin.
• di palpebral fissures dεm we de slan dכn: di כta kכna dεm na di yay kin lεk se dεn sכlכp sכmtεm dכn.
• sכm sכm lכw jaw (micrognathia): di lכw jaw kin sכm pas nכmal. Sɔntɛnde dis kin mek di pikin in fes luk difrɛn smɔl.
• Tumb we nɔ de ɔ we nɔ fayn: Di big an nɔ kin de, ɔ in shep kin chenj.
• sכt fכs an dεm εn i at fכ tכn di an na di εlbo: di fכs an (frכm di εlbo to di an) kin sכt. di rayus bon we de insay di an kin mis bak. di rεnj fכ muv na di εlbo kin rεdכks bak.
• Smɔl yes: Di yes dɛn kin smɔl pas aw i kin bi.
• di chεk bכn dεm we nכ de divεlכp (malar hypoplasia): di chεk bכn dεm nכ de divεlכp fulכp, we kin mek di chεk dεm lεk se dεn sכnk sכmtεm.

Impɔtant: Nɔto ɔl pikin dɛn kin gɛt dɛn sik ya di sem we. Sɔm pikin dɛn kin jɔs gɛt sɔm pan dɛn tin ya, ɛn ɔda wan dɛn kin gɛt bɔku.

Pan ɔl we i nɔ kin apin so ɔltɛm, sɔm prɔblɛm dɛn we dɛn kin bɔn we dɛn bɔn kin apin na di pikin in at, in kidni, in bɔdi, ɛn in urinary tract.

Di sayd ɛfɛkt dɛn we dis kin kam wit:

biכs sכm pan di pikin in bon dεm nכ de divεlכp fayn biכs fכ wan jεnεtik mכtεshכn, Nager sεndrכm kin mek sεvεra כda sayd ifekt dεm wit di simptom dεm. Dɛn tin ya na:

• Yu nɔ de yɛri fayn: As a bin dɔn tɔk bifo tɛm, we yu nɔ de yɛri fayn kin bi bikɔs yu gɛt prɔblɛm wit yu yes we yu de divɛlɔp.
• di we aw di briz de blo: di pikin kin at fכ brith, spεshal wan biכs di sכmכl lכw jaw.
• I nɔ izi fɔ di pikin fɔ it: Kɔndishɔn lɛk we di palata skata kin mek i nɔ izi fɔ mek di pikin gi pikin in bɛlɛ ɛn swɛla it.
• Dilay we yu de tɔk: Bikɔs yu nɔ de yɛri fayn ɛn di we aw yu mɔt de chenj, i kin te fɔ lan fɔ tɔk smɔl.

Wetin kin mek pɔsin gɛt Nager syndrome?

Di men tin we kin mek dis apin na we di jɛnɛtiks chenj . Sayɛnsman dɛm dɔn si se lɛk 50% pan di pipul dɛm we gɛt Nager syndrome gɛt dis sik bikɔs ɔf wan muteshon na wan jin we dɛn kɔl SF3B4 . dis jin de involv insay sεvεra imכtant wok dεm we de sho aw di sεl dεm na wi bכdi de gro εn divεlכp.

di rεst 50% pan di pipul dεm we gεt Nager sεndrכm de inhεrit insay wan כ tosom rεsεsiv patεn. Dat min se, lɛk aw a bin dɔn tɔk bifo tɛm, mama ɛn papa dɛn ɔl tu na pipul dɛn we de kɛr di pikin, ɛn di pikin gɛt ɔl tu dɛn tu jin dɛn de we dɔn chenj. כltu, we i kam pan dis (autosomal recessive) fכm, bכku tεm dεn nכ no di spεsifi k jin we de mek am yet . Dat min se, dɔktɔ dɛn no se na jɛnɛtiks, bɔt dɛn stil de du risach bɔt di jin we mek i gɛt am.

Aw dɛn kin no se pɔsin gɛt Nager syndrome?

Afta di pikin dɔn bɔn, di dɔktɔ dɛn go du wan kɔmplit bɔdi ɛgzamin fɔ di pikin. Dis na wae dɛn kin fɔs luk fɔ ɛni sayn na dɛn bɔdi wae gɛt fɔ du wit de sik. Fɔ ɛgzampul, dɛn go tek tɛm wach aw di pikin in fes shep, usay di finga dɛn de na di an dɛn, ɛn aw di yes dɛn shep.

Apat frɔm dat, dɛn kin du ɛkstrem rayt fɔ si aw di bon dɛn na di pikin in fes, in an, ɛn in ɔp an dɛn dɔn divɛlɔp. Dis kin sho klia wan if di bon nɔ de gro.

dεn kin du jεnεtik tεst fכ definitivli no dis kכndyushכn. Dis involv fɔ tek smɔl blɔd frɔm di pikin in il ɛn analayz am na lab. Na de, wan tɛknishian kin chɛk fɔ si if di pikin in DNA , in kromozom, ɔ in prɔtin dɛn chenj. Dɛn chenj ya na pruf fɔ sho se di sik na bikɔs ɔf in jɛnɛtiks.

Wetin na di tritmɛnt dɛm fɔ Nager syndrome?

Di tritmɛnt fɔ Nager syndrome kin difrɛn difrɛn wan bay aw di sik siriɔs.. Dat min se nɔto ɔl pikin nid di sem kayn tritmɛnt. Bɔt pikin we gɛt dis sik kin nid fɔ du wan ɔ mɔ ɔpreshɔn fɔ kɔntrol sɔm pan di bad tin dɛn we kin apin to am, lɛk afta dɛn bɔn am. Di op fɔ dɛn ɔpreshɔn ya na fɔ mek i izi fɔ di pikin fɔ du tin dɛn we impɔtant fɔ layf, lɛk fɔ blo ɛn it.

Di kayn ɔpreshɔn dɛn we dɛn kin du mɔ:

• Tracheostomy: Dis min se yu fɔ mek smɔl ol na di pikin in nɛk bifo, insay di briz paip (trachea), ɛn put wan tiub tru am. dis kin mek i izi fכ di pikin fכ brith , spεshal wan if di say we di briz de blo de bכku biכs fכ wan sכm lכw jaw.
• Gastrostomy: insay dis prosidur, dεn kin mek wan sכmכl ol tru di pikin in bεlε skin εn dεn kin put wan fכd tכb insay. Dis kin mek di pikin gɛt di tin dɛn we i nid fɔ liv , mɔ if di palata we swɛt de mek i nɔ izi fɔ drink ɔ swɛla.
• Tympanostomy: Insay dis prosidur, dεn kin put sכm sכm tכb dεm na di pikin in ia dכm. Dis kin ɛp fɔ mek yu nɔ gɛt infɛkshɔn na yu yes ɛn i kin mek yu yɛri fayn . Dipen pan aw di sik tranga, dɛn kin nid fɔ yuz ɛp fɔ yɛri bak.
• Kraniofacial ɔpreshɔn: Dis kin min ɔpreshɔn pan di fes ɛn di skel. I kin kɔrɛkt sɔm pan di chenj dɛn we di pikin de chenj na in fes, lɛk we in palata skata, in jaw we nɔ de divɛlɔp fayn, ɛn in yay we de slan.

Ɔda tritmɛnt dɛm fɔ ɛp fɔ kɔntrol di sayn dɛm

If yu no dis sik kwik kwik wan ɛn trit yu pikin, dat kin mek yu pikin gɛt bɛtɛ tin fɔ du. Apat frɔm ɔpreshɔn, bɔku ɔda tritmɛnt ɛn savis dɛn de we go ɛp yu pikin fɔ du ɔl wetin i ebul fɔ du.

• Fizik tritmɛnt: Dis kin ɛp di pikin fɔ waka fayn, yuz in an, ɛn du wok dɛn ɛvride . dis rili imכtant fכ mek di rεnj fכ muv na di an εn leg dεm, εn fכ mek di mכsul dεm strכng.
• Spich therapy: Bikɔs pikin kin gɛt prɔblɛm wit in yɛri, dis kin afɛkt ustɛm ɛn aw dɛn kin lan fɔ tɔk. Tεrapi tεrapi de εp fכ kכrekt dεn dilay dεm ya we de mek di tכk divεlכpmεnt .
• Saykososial tɛrapi: Dis nɔto fɔ di pikin nɔmɔ, bɔt fɔ di wan ol famili . I de gi gayd ɛn sɔpɔt fɔ ɛp ɔlman fɔ bia wit de strɛs ɛn wɔri wae kin kam wit dis sik, ɛn fɔ gɛt gud maynd wɛl bɔdi .
• Kɔnsul fɔ di jɛnɛtiks:Jɛnɛtik kɔlnɔ na spɛshal pipul dɛm we kin asɛs yu risk fɔ gɛt pikin we gɛt jɛnɛtik kɔndishɔn, gi yu sɔpɔt bifo ɛn we yu gɛt bɛlɛ, ɛn gayd yu fɔ kia ɛn wɛlbɔdi fɔ yu pikin afta dɛn bɔn am. Yu kin tɔk to dɛn bɔt ɛni kwɛstyɔn ɔ tin we de mɔna yu.

I gɛt we fɔ ridyus di risk fɔ mek pikin gɛt Nager syndrome?

Infakt, bikɔs bɔku tɛm, Nager syndrome kin bi bikɔs ɔf wan random genetic mutation , no patikyula we nɔ de fɔ mek i nɔ apin. Dat min se, i nɔ kin izi fɔ se, ‘If wi du dis, wi go ebul fɔ stɔp dis sik fɔ mek i nɔ kam.’

Bɔt lɛ wi se wan pan di mama ɛn papa gɛt Nager syndrome. If na so i bi, we dɛn kin de fɔ ridyus di chans fɔ pas am to di pikin. Bɔt dat go mɔs nid fɔ mek di wan dɛn we de stɔdi bɔt di jɛnɛtiks ɛn ɔda pipul dɛn we de kia fɔ wɛlbɔdi biznɛs evalueshɔn.

If yu de op fɔ bɔn pikin, dat min se yu de plan fɔ gɛt bɛlɛ , i rili impɔtant fɔ go to yu dɔktɔ ɛn du tɛst fɔ yu jɛnɛtiks . Dis kin ɛp fɔ no yu risk fɔ gɛt pikin wit wan jenɛtik kɔndishɔn.

If yu gɛt pikin we gɛt Nager syndrome, wetin yu fɔ tink bɔt tumara bambay?

Nager syndrome na wan sik wae de kam wae yu de liv yu layf , ɛn no patikyula mɛrɛsin nɔr de fɔ am. Bɔt, nɔ wɔri. If dɛn trit di pikin fayn ɛn mɛn am, i go ebul fɔ liv gud layf.

Afta dɛn bɔn yu pikin, i go mɔs bi se di dɔktɔ dɛn go plan fɔ du ɔpreshɔn fɔ trit yu pikin in bad bad tin dɛn, mɔ fɔ mek i izi fɔ blo ɛn it . As yu pikin de gro, yu go nid fɔ kɛr yu pikin go to dɔktɔ ɔltɛm fɔ mek shɔ se i de mit di divɛlɔpmɛnt maylston dɛm ɛn fɔ adrɛs ɛnitin we de delay.

Mɛmba se: Fɔ ɛp yu pikin kwik kwik wan na di men tin we go ɛp yu fɔ liv fayn layf ɛn we go mek i fil fayn.

Bikɔs di pikin in sɛns nɔ kin afɛkt bɔku tɛm, if dɛn gɛt di rayt mɛrɛsin, ɛp fɔ lan buk, ɛn lɔv na in famili, dɛn pikin ya kin lan lɛk ɔda pikin dɛn ɛn liv fayn na sosayti.

If wan pan mi pikin dɛn gɛt Nager syndrome, i pɔsibul se mi ɔda pikin dɛnsɛf go gɛt am?

Yɛs, i pɔsibul fɔ mek pas wan pikin gɛt Nager syndrome , mɔ if di jin fɔ am pas wan mama ɔ papa to di pikin. Dis min se di risk kin difrɛn difrɛn wan bay di famili in jɛnɛtik histri.

Fɔ no kɔrɛkt wan di risk fɔ mek yu pikin dɛn we go kam fɔ gɛt dɛn jenɛtik kɔndishɔn, i go fayn fɔ mek yu gɛt yuTɔk to yu dɔktɔ bɔt aw fɔ tɛst yu jɛnɛtiks . Wan pɔsin we de advays yu bɔt yu jɛnɛtiks kin ɛksplen dis to yu mɔ.

Ustɛm a fɔ go to dɔktɔ? Wetin a fɔ wɔri bɔt?

If yu du tin kwik kwik wan fɔ manej di rayt tritmɛnt ɛn di sayd ɛfɛkt dɛn, yu pikin kin gro fɔ tan lɛk ɔda pikin dɛn we i ol ɛn liv nɔmal layf . I rili impɔtant fɔ kɛr yu pikin go chɛk-ap ɔltɛm fɔ wach aw i de gro ɛn aw i de gro, mɔ insay di fɔs ia .

If yu notis dɛn tin ya, go to dɔktɔ wantɛm wantɛm:

• If yu pikin de mis di divɛlɔpmɛnt maylston dɛm . Fɔ ɛgzampul, if dɛn nɔ rol, sidɔm, ɔ tɔk di rayt ej.
• If di skin na di say we dɛn du di ɔpreshɔn nɔ de wɛl, i dɔn swel, i dɔn chenj in kɔlɔ, ɔ i tan lɛk se i de kɔmɔt yɔlɔ ɔ klia wata (infɛkshɔn) .
• If yu pikin nɔ de ansa simpul kɔmand ɔ i tan lɛk se i nɔ izi fɔ yɛri .

I rili impɔtant: If yu pikin gɛt prɔblɛm fɔ blo , kɔl 911 wantɛm wantɛm ɔ kɛr dɛn go na di ɔspitul imejensi dipatmɛnt we de nia yu. Dis na imejensi.

Wetin na di difrɛns bitwin Nager syndrome ɛn Miller syndrome?

Miller sεndrכm, we dεn kכl bak postaxial acrofacial dysostosis, na wan jεnεtik kכndyushכn we nכ kin apin we lεk Nager sεndrכm. pan di tu kכndyushכn dεm, di pikin in bon dεm εn di katilej dεm nכ de divεlכp fayn fayn wan na di bεlε, we de mek di sem tin dεm na in fes, in an dεm, εn fכs an dεm.

Bɔt, wan impɔtant difrɛns de. Miller syndrome kin afɛkt di fut dɛm bak , we min se yu kin si sɔm chenj dɛm na di fut dɛm bak. Bɔt bɔku tɛm, di sik we dɛn kɔl Nager syndrome nɔ kin afɛkt di fut dɛn .

Wan ɔda impɔtant difrɛns na di chenj we de apin na di jɛnɛtiks we de mek dɛn tu tin ya apin. Miller sεndrכm de kכz bay wan mכtεshכn na di DHODH jin . Nager syndrome kin bi bikɔs ɔf wan muteshon na di SF3B4 jin (insay sɔm kes dɛm, ɔda jin dɛm kin involv, ɔ dɛn nɔ no di kɔz yet).

Fɔ dɔn, sɔm impɔtant tin dɛn we yu fɔ mɛmba:

Na nɔmal tin fɔ fil bad ɛn wɔri we yu de lan bɔt dis kayn tin we nɔ kin apin so ɔltɛm. Bɔt,I impɔtant fɔ mek yu ɔndastand se pikin dɛn we gɛt Nager syndrome kin gɛt rili fayn prɔgnosis if dɛn gɛt di rayt mɛrɛsin ɛn intavɛnshɔn ali.

Pan ɔl we wi nɔ no di rayt tin we kin mek pɔsin gɛt prɔblɛm wit in jɛnɛtiks, i impɔtant fɔ mɛmba se di jin dɛn we kin mek pɔsin gɛt dɛn sik ya kin pas frɔm mama ɔ papa to pikin. So, if yu de plan fɔ gɛt bɛlɛ , i go fayn fɔ mek yu tɔk to yu dɔktɔ bɔt aw fɔ tɛst yu jɛnɛtiks fɔ no if yu gɛt pikin we gɛt wan sik.

Mɛmba se nɔto yu wangren de. Dɔktɔ, tritmɛnt pipul, ɛn advaysa dɛn de fɔ ɛp ɛn gayd yu pan dis waka. If yu gi yu pikin di lɔv, kia, ɛn sɔpɔt we i nid, ɛn we yu fala di rayt advays we dɔktɔ gi yu, yu go mek di rod fɔ mek yu pikin gɛt gud layf.

` Nagar Sindrom, Jɛnɛtik Difɛkt, Fes Abnɔmal, Limb Abnɔmal, Pikin Wɛlbɔdi, Kɔnjɛnital Sik, Jɛnɛtik Kɔnsul