He raruraru te tipu o tāu tamaiti? Me kōrero tātou mō te mate onge, te Robinow Syndrome.

I ētahi wā, ka āwangawanga tātou ki ngā mea iti e pā ana ki te whanaketanga o ā tātou tamariki, kāore? He rerekē te whanaketanga o ētahi tamariki, kāore rānei ō rātou waewae e whanake pērā i tā tātou e whakaaro ai. I tēnei rā ka kōrero tātou mō tētahi mate ira tino onge. Ko te ingoa o tēnei ko te Robinow Syndrome, ko te "Robinow Syndrome" rānei i te reo Pākehā. Kaua e mataku ina rongo koe i tēnei, nā te mea ehara tēnei i te mea e pā ana ki te tini o te tangata. Heoi, he mea nui kia mōhio te katoa ki tēnei.

He aha te Mate Robinow?

He whakarāpopototanga noa iho, ko te Robinow Syndrome he mate ira onge e pā ana ki te whanaketanga o te angaanga o te tamaiti me ētahi atu wāhanga o te tinana. Hei tauira, ko ētahi o ngā ringa, ngā waewae, me ngā maihao o ngā tamariki he poto ake i te mea noa. Tērā pea he tuaiwi piko (e kiia ana ko te scoliosis), he iti te rara o te uma, he āhua o te kanohi, he rerekētanga o te ira tangata, ā, i ētahi wā ka roa te whanaketanga.

He maha atu anō ngā ingoa e whakamahia ana e ngā tākuta mō tēnei mate. He mea pai hoki kia mōhiotia rātou:

• 'Te dysostosis acral me ngā hapa o te kanohi me te ira tangata' (arā, ngā hapa o te kanohi me te ira tangata me ngā raruraru o ngā wheua o ngā peka).
• 'Te mate kanohi o te pēpi' (e kiia ana pērā nā te mea he rite te mata o te pēpi ki te mata o te tamaiti i roto i te kōpū).
• Te whakapoto o ngā wāhanga waenga o ngā peka me ngā ira tangata iti - te mate o te iti o te rahi o ngā ira tangata (me te poto o ngā wāhanga o waenganui o ngā peka me ngā ira tangata iti).
• 'Te whakarōpūtanga o ngā Robinnow'.
• 'Te mate Robinnow-Silverman' te 'mate Robinnow-Silverman-Smith' rānei.

Ahakoa he maha ngā ingoa mō ēnei, he rite tonu te āhua hauora e pā ana ki ēnei katoa.

E rua ngā momo o te Mate Robinow?

Āe, e rua ngā momo matua o te mate Robinow. Ko ēnei:

1. Momo ira tuku iho ā-iwi: Ahakoa he ahua uaua tēnei, engari ki te kī māmā noa, kia puta ai tēnei momo ira, me riro i te tamaiti te rerekētanga ira e tika ana mai i ngā mātua e rua.

2. Momo autosomal dominant: I tēnei momo, ka puta te mate ahakoa i tukuna iho te huringa ira e tika ana mai i tētahi mātua, i puta noa rānei he huringa ira hou.

He rerekē ēnei momo e rua tetahi i tetahi:

• E ai ki te whakarerekētanga ira e puta ai te mate.
• Kei te āhua o te tukunga iho o tēnei mate ki te tangata .
• E ai ki ngā tohu me ngā āhuatanga kua whakaaturia.
• I runga i te kaha o te mate.

He pēhea te onge o te mate Robinow?

He tino onge tēnei mate . E ai ki ngā tuhinga hauora, kua pūrongohia te momo autosomal recessive i roto i te iti iho i te 200 ngā take puta noa i te ao. Kua pūrongohia hoki te momo autosomal dominant i roto i te tata ki te 50 whānau. Nō reira, ka taea e koe te whakaaro he aha te onge o tēnei.

He aha i puta ai te mate Robinow Syndrome?

Ko te take matua mō tēnei he whakarerekētanga ira . Ko ngā mea katoa o roto i tō tātou tinana e whakahaeretia ana e ngā ira. Nō reira, ki te mea he huringa, he hapa rānei kei roto i ēnei ira, ka puta ēnei āhuatanga.

• Ko te mate Robin autosomal recessive ka puta mai i te whakarerekētanga o tētahi ira e kiia nei ko te ROR2. E whakapono ana ngā kaipūtaiao ko te pūmua e whakaputaina ana e tēnei ira ROR2 ka āwhina i te whanaketanga o ō tātou angaanga, te ngākau, me ngā ira tāne. Nō reira, ina he raruraru ki tēnei ira, kāore te pūmua e hanga tika.
• Ko te mate Robino autosomal dominant ka puta mai i ngā whakarerekētanga ira i roto i ētahi ira (FZD2, WNT5A, DVL1, DVL3). Ka whai wāhi hoki ēnei ira ki te whakaputa i ngā pūmua e pā ana ki te whanaketanga o te kukune i te tīmatanga. Heoi, kāore anō kia tino māramahia ā rātou mahi.

Engari ko te mea rerekē, i ētahi wā ka puta tēnei Mate Robinow ahakoa kāore he huringa ira i kitea. Kāore anō kia tino mōhiotia e ngā kaipūtaiao he aha i puta ai tēnei.

He pēhea te tukunga iho o te mate Robinow?

Kua kōrero kē tātou mō ngā huarahi matua e rua hei tuku iho i tēnei. Me titiro tātou ki tēnā me ētahi atu taipitopito.

• Hei mate whakaheke: Ka puta tēnei ina riro i te tamaiti ngā tārua e rua o te ira rerekē – mai i ngā mātua e rua. Ko te mea nui i konei ko ngā mātua e rua pea he kawe i te ira, engari kāore pea he tohu o te mate . Me te mea kei roto i ō rāua tinana te ira hei mea ngaro. Nō reira, ki te whānau he tamaiti mā ngā kawe e rua, e 25% te tūponotanga ka pāngia te tamaiti e te mate Robin autosomal recessive. Ko te tikanga o tēnei, ehara i te mea ka whānau mai ngā tamariki katoa me tēnei mate, engari he tūponotanga kei reira.
• Mate matua: Koinei te wā ka riro mai i te tamaiti te ira rerekē mai i te mātua kotahi anake. I ētahi wā rānei, ka puta noa mai he huringa ira hou (whakarerekētanga ā-pūtake), arā, kāore he take e kitea ana, i te wā e whanake ana te tamaiti i roto i te kōpū. He uaua ki te kī tika he aha i puta ai ēnei huringa ā-pūtake.

Nō reira, i ētahi wā ka taea e te tangata te kawe i tēnei whakarerekētanga ira me te kore e mōhio. Koia te take ka taea e te tamaiti te pāngia e tēnei mate ahakoa kāore he tangata o te whānau e pāngia ana e tēnei mate.

He aha ngā tohu o te tamaiti e pāngia ana e te mate Robinow?

Ka rerekē rawa ngā tohu o tēnei i ia tangata, i ia tangata. Kei te momo mate me tōna kaha. E ai ki tā mātou i kōrero ai i mua ake nei, ko te momo autosomal recessive ka whakaatu pea i ētahi atu tohu.

Ngā āhuatanga rerekē e kitea ana i te mata:

He āhua kanohi ō ngā tamariki e pāngia ana e tēnei mate. I ētahi wā ka karangatia rātou ko ngā "fetal facies," nā te mea he rite ki ngā āhua kanohi o te tamaiti kei roto i te kōpū. Kei roto i ēnei āhuatanga:

• He rae whānui, he rae pūwero rānei.
• Tērā pea he rerekē te tūnga o ngā taringa, hei tauira, he iti rawa te piko ki runga i te māhunga, he paku piko rānei.
• He upoko nui atu i te mea noa (`(Macrocephaly)`) .
• He roa, he hōhonu te awaawa hōhonu (philtrum) i waenganui o te ngutu o runga.
• Ngā kanohi e pupū ake ana, e whānui ana te tawhiti.
• He ihu poto, he ihu piko.
• He kauae iti, he kauae rānei.
• He waha tapatoru te āhua.
• He piriti ihu whānui, totohu rānei (te tihi o te ihu).

Ngā āhuatanga i kitea i roto i te angaanga:

Koinei ngā huringa matua e kitea ana i roto i ngā wheua:

• He scoliosis (te ngoikore o te hope) .
• Te whakaroa o te tipu me te poto o te tinana.
• Ngā raruraru niho. Hei tauira, he niho piri, he nui rawa te tupu o ngā kapia, he waha ngatata rānei.
• Tērā pea ka piri ngā rara tetahi ki tetahi, kāore rānei ētahi rara i te kitea.
• Te whakapoto i ngā wheua o ngā ringa me ngā waewae.
• Te whakapoto i ngā maihao (ngā ringaringa me ngā waewae) (`(Brachydactyly)`) .

Ētahi atu tohu:

Hei tāpiri atu ki tēnei, ka kitea anō hoki ētahi atu āhuatanga:

• Ngā whakaroa whanaketanga . Engari ko te mea nui ki te kī i konei, he maha ngā tamariki e pāngia ana e te Mate Robinow kāore e pāngia e ngā hauātanga hinengaro i muri mai i te oranga. Ko te tikanga o tēnei, he mea noa pea ō rātou pūkenga ako.
• Ngā mate whatukuhu, ngā mate ngākau rānei.
• Kāore i tino whanake ngā ira tāne. I ētahi wā, ka uaua te tautuhi i te ira tāne, wahine rānei te tamaiti, ahakoa kei te tū te ira tāne.

He aha te mate Osteosclerotic Robinow?

Mō tētahi hunga tokoiti e pāngia ana e te mate Robinow autosomal dominant (nā te whakarerekētanga ira i roto i te ira DVL1), tera pea he matotoru ake, he mārō ake rānei ō rātou wheua i te mea noa . Ka tapaina tēnei āhuatanga e ngā tākuta ko te Osteosclerotic Robinow Syndrome.

Me pēhea te tautuhi i te mate Robinow Syndrome?

Ko te tikanga ka kitea tēnei mate mā te tirotiro i ngā āhuatanga tinana o te tamaiti. Ina tirotirohia te tamaiti e te tākuta, ka tirohia e rātou ngā tohu kua whakahuatia ake nei.

"Āe, e te tākuta, he rerekē te āhua o te mata o taku pēpi i ērā atu tamariki... He poto ake te āhua o ōna waewae me ōna waewae..." Ko ētahi mātua te tuatahi ka whakaaro ake ki ngā mea pēnei.

Heoi, hei whakaū i te mate, me whai whakamātautau ira motuhake ("(Testing gene ira ngota)`) hei tirotiro mēnā he huringa ira . Ka mahia tēnei i roto i te taiwhanga mā te whakamātautau:

• He tauira toto
• He tauira huware
• He ūkui paparinga
• I ētahi wā he wāhanga iti o te kiri

Mena kei te pāngia tētahi o tō whānau e te mate Robinow...

I roto i tēnei āhuatanga, ka tūtohu pea ngā tākuta kia whakamātauria te pēpi mō tēnei āhuatanga i te wā e hapū ana.

• Ka taea te whakahaere i tētahi whakamātautau e kīia nei ko te "Chorionic villus sampling" mā te tango i tētahi tauira iti mai i te whenua kōiwi.
• Tērā atu rānei, ka taea te whakahaere i tētahi whakamātautau ira ("(Genetic amniocentesis)`), arā, ko te tango tauira o te wai amniotic e karapoti ana i te pēpi.

Nā te mea he uaua rawa ēnei whakamātautau, ka mahia anake i runga i te tohutohu a te taote.

Me pēhea te rongoā i te tamaiti e pangia ana e te Robinow Syndrome?

He rerekē te maimoatanga mō tēnei i ia tangata, i ia tangata . Kei runga i ngā tohumate o te tamaiti. He maha ngā wā ka rongoatia te tamaiti e tētahi rōpū tohunga mai i ngā momo mara rerekē. Kei roto pea i tēnei rōpū:

• Tākuta ngakau – mēnā he raruraru ngakau tōu.
• Tākuta niho, tākuta niho whakahāngai, tākuta pokanga waha rānei – mō ngā raruraru niho me te kauae.
• Tohunga Endocrinologist – Mō ngā raruraru homoni e pā ana ki te whanaketanga o te ira tangata.
• Tākuta tamariki – Tirohia te hauora whānui o te tamaiti.
• Kaiwhakaora tinana – hei whakapai ake i te nekehanga me te mahi a te tinana.
• Taote pokanga wheua – mō ngā raruraru o ngā wheua me ngā hononga.

Hei maimoatanga, ka taea te mahi i ngā mahi e whai ake nei:

• Tāpirihia he takai motuhake, he mea whakarewa rānei hei tautoko i ngā wheua e pāngia ana.
• Whakamahia ngā taputapu niho motuhake (ngā whītiki me ētahi atu taputapu waha) hei whakatika i ngā raruraru niho.
• Hoatu he rongoā homoni hei whakatairanga i te tipu, i te whanaketanga rānei o ngā ira tāne.
• Mahia ngā mahi whakakori tinana motuhake hei whakapakari i te tinana, hei whakapai ake hoki i te mahi a te tinana.
• He pokanga hei whakatika i ngā āhuatanga hē o te angaanga, o ngā ira tangata rānei.

Haunga ēnei mea katoa, ka tohutohu anō ngā tākuta i te hunga whai mate Robinow Syndrome me ō rātou whānau kia rapu tohutohu ira . Mā tēnei ka āwhina i a rātou kia mārama ake ki te āhua, me pēhea te tuku iho, me ngā mea hei tirotiro mā rātou ina whānau tamariki ā muri ake nei.

Ka taea te ārai i te mate Robinow Syndrome?

Ina hoki, ki te kore ngā tāne me ngā wāhine e whai whakamātautau ira i mua i te whakatōnga , kāore he huarahi hei ārai i te whakarerekētanga ira e puta ai te Mate Robinow. Mena kei a koe, kei tētahi rānei o tō whānau tēnei mate, ko te mea pai ko te kōrero ki tētahi tākuta, ki tētahi kaitohutohu ira rānei. Ka taea e rātou te tohutohu i a koe mō te tūponotanga o te tuku i te mate ki ngā whakatipuranga o muri mai.

He aha te heke mai mō te tangata e pāngia ana e te Mate Robinow?

He rerekē te matapae mō te tangata e pāngia ana e tēnei mate. Kei runga i ngā tohu me tōna kaha. Ka taea e ngā raruraru onge o te ngākau me te whatukuhu te whakapoto i te roanga o te oranga. Heoi, he maha ngā tāngata e ora noa ana me te tiaki hauora me te tautoko pai.

Mena kei te pāngia taku tamaiti e te mate Robinow Syndrome, he aha atu ngā mea me pātai atu e au ki te tākuta?

Mena kua kitea tō tamaiti kei te pāngia e tēnei mate, ka taea e koe te pātai atu ki ngā tākuta i ēnei pātai. He tino āwhina ēnei:

• "E te tākuta, he aha te momo Robinow Syndrome kei taku tamaiti? " (Arā, he autosomal recessive, he dominant rānei).
• " Me whakaaro rānei tātou ki te pokanga hei whakatika i ngā āhuatanga rerekē o ngā wheua, o ngā ira tangata rānei? "
• "Ka whakaroa te whanaketanga o taku tamaiti?"
• "He mate manawa, he mate whatukuhu rānei tōu?"
• " He aha te momo tohunga me toro atu mātou? Kia pēhea te auau o tā mātou toro atu ki a rātou?"
• " He aha ngā tohu e tika ana kia tino āwangawanga ahau? Me whakapā atu ahau ki a koe mēnā ka kite ahau i tētahi mea pēnei?"
• " Ka whakapotohia rānei e tēnei āhuatanga te roanga o te oranga o taku tamaiti? "
• "He rōpū tautoko kei reira hei āwhina i a tātou kia ora i roto i tēnei āhuatanga?"
• "E taunaki ana koe i te tohutohu ira ?"
• "He whakaaro pai te whakahaere i ngā whakamātautau ira mō te toenga o tō tātou whānau?"

Kia maumahara ki ēnei pātai. Mā te pātai i ēnei pātai ka āwhina i a koe ki te whiwhi i te maimoatanga me te tautoko pai rawa atu māu me tāu tamaiti.

Hei whakamutunga, ngā mea hei maumahara (Karere hei tango ki te kāinga)

He tino onge te mate ira o te Robinow Syndrome. Ka taea e ia te whakaputa i ngā rerekētanga o te wheua, ngā āhuatanga kanohi motuhake, ngā raruraru ira tangata, me ētahi atu raruraru. Kaua e manukanuka , ehara tēnei i te mea e pā ana ki te nuinga o te tangata.

Heoi, ki te whakaaro koe kei tō tamaiti tētahi o ēnei tohu, me toro atu ki tētahi tākuta whai tohu tonu . Ka taea e ngā tohunga te whakatika i ētahi o ngā āhuatanga rerekē o te angaanga me ngā ira tangata, me te āwhina i tō tamaiti kia pai ake te mahi. Mā te tiaki hauora tika, te whakaora tinana, me te aroha me te tautoko a te whānau, ka taea e ēnei tamariki te whakatutuki i ō rātou pūmanawa katoa.

` Te mate Robino, ngā mate ira, te whanaketanga o te tamaiti, ngā āhua rerekē o te wheua, ngā āhuatanga o te kanohi, te tohutohu ira, ngā mate onge