He pilikia anei ka ulu ʻana o kāu keiki? E kamaʻilio kākou e pili ana i ke ʻano maʻi laha ʻole ʻo Robinow Syndrome.

I kekahi manawa, hopohopo mākou i nā mea liʻiliʻi e pili ana i ka ulu ʻana o kā mākou mau keiki, ʻeā? ʻOkoʻa iki ka ulu ʻana o kekahi mau keiki, a ʻaʻole paha e ulu ko lākou mau lālā e like me kā mākou e manaʻo ai. I kēia lā, e kamaʻilio mākou e pili ana i kahi maʻi genetic kakaʻikahi loa. Ua kapa ʻia kēia ʻo Robinow Syndrome, a i ʻole "Robinow Syndrome" ma ka ʻōlelo Pelekania. Mai makaʻu i kou lohe ʻana i kēia, no ka mea, ʻaʻole kēia he mea e hana ʻia i nā poʻe he nui. Eia nō naʻe, he mea nui i nā mea a pau ke ʻike i kēia.

He aha ka Robinow Syndrome?

I ka ʻōlelo maʻalahi, ʻo ka Robinow Syndrome kahi maʻi genetic kakaikahi e hoʻopilikia i ka ulu ʻana o ka iwi o ke keiki a me nā ʻāpana ʻē aʻe o ke kino. No ka laʻana, ʻoi aku ka pōkole o nā lima, nā wāwae, a me nā manamana lima o kekahi mau keiki ma mua o ka maʻamau. Loaʻa paha iā lākou kahi iwi kuamoʻo piʻo (i kapa ʻia hoʻi he scoliosis), ka iwi ʻaoʻao haʻahaʻa, nā hiʻohiʻona o ka helehelena, nā ʻano ʻē o ka genital, a i kekahi manawa nā lohi o ka ulu ʻana.

Hoʻohana nā kauka i kekahi mau inoa ʻē aʻe no kēia maʻi. He mea maikaʻi ke ʻike iā lākou:

• ʻO ka dysostosis acral me nā ʻano ʻē o ka maka a me ka ʻōpū (ʻo ia hoʻi, nā ʻano ʻē o ka maka a me ka ʻōpū me nā pilikia ma nā iwi o nā lālā).
• ʻO ka `Fetal face syndrome` (i kapa ʻia pēlā no ka mea ua like ke alo o ka pēpē me ke alo o kahi fetus i loko o ka ʻōpū).
• ʻO ka Mesomelic dwarfism-sma genitalia liʻiliʻi (ka pōkole o nā ʻāpana waena o nā lālā a me nā genitalia liʻiliʻi).
• ʻO ke ʻano dwarf o Robinnow.
• ʻO ka 'maʻi Robinnow-Silverman' a i ʻole 'maʻi Robinnow-Silverman-Smith'.

ʻOiai he nui nā inoa no kēia mau mea, pili lākou a pau i ke ʻano olakino like.

Aia kekahi ʻano ʻelua o ka Robinow Syndrome?

ʻAe, aia ʻelua ʻano nui o ka Robinow Syndrome. ʻO lākou kēia:

1. ʻAno autosomal recessive: He mea paʻakikī paha kēia, akā i ka ʻōlelo maʻalahi, i mea e hiki mai ai kēia ʻano, pono i ke keiki ke hoʻoilina i ka ʻano hoʻoilina kūpono mai nā mākua ʻelua.

2. ʻAno autosomal dominant: Ma kēia ʻano, hiki ke loaʻa ka maʻi inā paha i hoʻoilina ʻia ka loli genetic pili mai kekahi makua mai, a i ʻole inā loaʻa kahi loli genetic hou ma ka ulia pōpilikia.

He ʻokoʻa kēia mau ʻano ʻelua kekahi i kekahi:

• Wahi a ka hoʻololi ʻana o ka genetic e hoʻoulu ai i ka maʻi.
• Ma muli o ke ʻano o ka hoʻoilina ʻana o ke kanaka i kēia maʻi.
• E like me nā hōʻailona a me nā ʻōuli i hōʻike ʻia.
• Ma muli o ke koʻikoʻi o ka maʻi.

Pehea ka laha ʻole o ka Robinow Syndrome?

He ʻano maʻi laha ʻole kēia. Wahi a nā moʻolelo lapaʻau, ua hōʻike ʻia ke ʻano autosomal recessive ma lalo o 200 mau hihia ma ka honua holoʻokoʻa. Ua hōʻike pū ʻia ke ʻano autosomal dominant ma kahi o 50 mau ʻohana wale nō. No laila hiki iā ʻoe ke noʻonoʻo i ka laha ʻole o kēia.

No ke aha e kū mai ai ka Robinow Syndrome?

ʻO ke kumu nui o kēia, he loli hoʻoilina . Hoʻomalu ʻia nā mea āpau i loko o ko mākou kino e nā genes. No laila, inā he loli a kīnā paha i loko o kēia mau genes, hana ʻia kēia mau kūlana.

• Hoʻokumu ʻia ka autosomal recessive Robin syndrome e kahi mutation i loko o kahi gene i kapa ʻia ʻo ROR2. Manaʻo nā kānaka ʻepekema ʻo ka protein i hana ʻia e kēia gene ROR2 e kōkua i ka ulu ʻana o ko kākou iwi, ka puʻuwai, a me nā ʻāpana genital. No laila, i ka wā e loaʻa ai kahi pilikia me kēia gene, ʻaʻole i hana pono ʻia ka protein.
• Hoʻokumu ʻia ka maʻi autosomal dominant Robino e nā mutations i loko o kekahi mau genes (FZD2, WNT5A, DVL1, DVL3). Hāʻawi pū kēia mau genes i ka hana ʻana o nā protein e pili ana i ka ulu mua ʻana o ka embryonic. Eia naʻe, ʻaʻole i maopopo piha ʻia kā lākou mau hana.

Akā ʻo ka mea kupanaha, i kekahi manawa hiki ke loaʻa kēia Robinow Syndrome me ka ʻole o nā loli genetic i loaʻa. ʻAʻole maopopo i nā kānaka ʻepekema ke kumu o kēia.

Pehea i hoʻoilina ʻia ai ka Robinow Syndrome?

Ua kamaʻilio mua mākou e pili ana i ʻelua mau ala nui e hoʻoilina ai i kēia. E nānā kākou i kēlā me nā kikoʻī hou aku.

• Ma ke ʻano he maʻi recessive: Hana ʻia kēia ke hoʻoilina ke keiki i ʻelua kope o ka gene ʻano ʻē - mai nā mākua ʻelua. ʻO ka mea nui ma ʻaneʻi, hiki i nā mākua ʻelua ke lilo i mau mea lawe o ka gene, akā ʻaʻole paha lākou e loaʻa i kekahi mau hōʻailona . Me he mea lā he gene i loko o ko lākou kino ma ke ʻano he mea huna. No laila, inā loaʻa i ʻelua mau mea lawe he keiki, aia ma kahi o 25% ka manawa e loaʻa ai i ke keiki ka autosomal recessive Robin syndrome. ʻO ke ʻano kēia, ʻaʻole e hānau ʻia nā keiki āpau me kēia ʻano, akā aia kahi pilikia.
• ʻO ka maʻi Dominant: ʻO kēia ka wā e hoʻoilina ai ke keiki i ka gene ʻano ʻē mai hoʻokahi makua wale nō. A i ʻole, i kekahi manawa, hiki ke hana ʻia kahi loli genetic hou (mutation spontaneous) me ka manaʻo ʻole, ʻo ia hoʻi, me ke kumu ʻole, ʻoiai ke ulu nei ke keiki i loko o ka ʻōpū. He paʻakikī ke ʻōlelo pololei i ke kumu o ia mau loli maʻamau.

No laila, i kekahi manawa hiki i ke kanaka ke lilo i mea lawe o kēia hoʻololi genetic me ka ʻike ʻole. ʻO ia ke kumu i kekahi manawa hiki i kahi keiki ke loaʻa i kēia maʻi ʻoiai inā ʻaʻohe mea o ka ʻohana i loaʻa iā ia.

He aha nā hōʻailona o kahi keiki me ka Robinow Syndrome?

Hiki ke ʻokoʻa loa nā hōʻailona o kēia mai kēlā kanaka a kēia kanaka. Aia ia i ke ʻano o ka maʻi a me kona koʻikoʻi. E like me kā mākou i ʻōlelo ai ma mua, hiki i ke ʻano autosomal recessive ke hōʻike pinepine i nā hōʻailona hou aʻe.

Nā ʻano ʻē i ʻike ʻia ma ka maka:

Loaʻa i nā keiki me kēia maʻi kekahi mau hiʻohiʻona helehelena. I kekahi manawa ua kapa ʻia lākou he "fetal facies," no ka mea ua like lākou me nā hiʻohiʻona helehelena o kahi fetus i loko o ka ʻōpū. ʻO kēia mau hiʻohiʻona:

• He lae ākea a i ʻole ka lae e kīkoʻo ana.
• Hiki ke kau ʻia nā pepeiao ma kahi ʻano ʻē, no ka laʻana, haʻahaʻa ma ke poʻo a wili iki paha.
• ʻO ke poʻo i ʻoi aku ka nui ma mua o ka maʻamau (`(Macrocephaly)`) .
• He lōʻihi a hohonu hoʻi ke awāwa hohonu (philtrum) ma waenakonu o ka lehelehe luna.
• Nā maka e kīkoʻo ana, me nā maka i wehe nui ʻia.
• He ihu pōkole i luna.
• He ʻauwae liʻiliʻi a ʻauwae paha.
• He waha i ke ʻano o ka huinakolu.
• He alahaka ihu ākea a piholo paha (ka piko o ka ihu).

Nā hiʻohiʻona i ʻike ʻia ma ka iwi:

Eia nā loli nui i ʻike ʻia i nā iwi:

• ʻO ka scoliosis (scoliosis) .
• Ka lohi o ka ulu ʻana a me ke kino pōkole.
• Nā pilikia niho. Eia kekahi laʻana, nā niho paʻa, ka ulu nui ʻana o nā ʻāʻī, a i ʻole ka palale māwae.
• Paʻa paha nā iwi ʻaoʻao, a nalowale paha kekahi mau iwi ʻaoʻao.
• Ka pōkole ʻana o nā iwi ma nā lima a me nā wāwae.
• Ka pōkole ʻana o nā manamana lima (nā lima a me nā wāwae) (`(Brachydactyly)`) .

Nā hōʻailona ʻē aʻe:

Ma waho aʻe o kēia, hiki ke ʻike ʻia nā ʻano ʻē aʻe:

• Nā lohi o ka ulu ʻana . Akā ʻo ka mea nui e ʻōlelo ʻia ma ʻaneʻi, ʻo ka nui o nā keiki me ka Robinow Syndrome ʻaʻole i loaʻa i nā kīnā noʻonoʻo ma hope o ke ola. ʻO ke ʻano kēia, he mea maʻamau paha ko lākou hiki ke aʻo.
• Nā pilikia puʻupaʻa a puʻuwai paha.
• ʻO nā ʻāpana kino i ulu pono ʻole. I kekahi manawa, ua kau ʻia nā ʻāpana kino i kahi ala e paʻakikī ai ke ʻike maopopo inā he kāne a he wahine paha ke keiki.

He aha ka Osteosclerotic Robinow Syndrome?

I loko o kahi helu liʻiliʻi o ka poʻe me ka autosomal dominant Robinow syndrome (i hoʻokumu ʻia e kahi mutation i loko o ka gene DVL1), ʻoi aku ka mānoanoa a paʻakikī paha o ko lākou mau iwi ma mua o ka maʻamau . Ua kapa nā kauka i kēia ʻano ʻo Osteosclerotic Robinow Syndrome.

Pehea e ʻike ʻia ai ka Robinow Syndrome?

ʻIke pinepine ʻia kēia maʻi ma ka nānā ʻana i nā ʻano kino o ke keiki. Ke nānā pono ke kauka i ke keiki, e nānā lākou i nā hōʻailona i ʻōlelo ʻia ma luna.

"Auē, kauka, ʻokoʻa iki ke ʻano o ka helehelena o kaʻu pēpē mai nā keiki ʻē aʻe... Ua pōkole iki kona mau lālā..." ʻO kekahi mau mākua ke manaʻo mua me nā mea e like me kēia.

Eia nō naʻe, no ka hōʻoia ʻana i ka maʻi, pono kahi hoʻāʻo genetic kūikawā ("(Molecular genetic testing)`) e ʻike inā he loli genetic . Hana ʻia kēia ma ka hale hana ma o ka hoʻāʻo ʻana:

• He hāpana koko
• He hāpana lawai
• He ʻūpā papālina
• I kekahi manawa he ʻāpana liʻiliʻi o ka ʻili

Inā loaʻa kekahi o kou ʻohana i ka Robinow Syndrome ...

I ia hihia, hiki i nā kauka ke aʻo aku i ka hoʻāʻo ʻana i ka ʻōpū no kēia kūlana i ka wā hāpai. No kēia:

• Hiki ke hana i kahi hoʻāʻo i kapa ʻia ʻo "Chorionic villus sampling" ma ka lawe ʻana i kahi hāpana liʻiliʻi mai ka placenta.
• ʻOkoʻa, hiki ke hana ʻia kahi hoʻāʻo genetic ("(Genetic amniocentesis)`), ʻo ia hoʻi ka lawe ʻana i kahi hāpana o ka wai amniotic e hoʻopuni ana i ka pēpē.

Ma muli o ka paʻakikī iki o kēia mau hoʻokolohua, hana wale ʻia lākou ma ke ʻōlelo aʻoaʻo a ke kauka.

Pehea e mālama ʻia ai ke keiki me ka Robinow Syndrome?

ʻOkoʻa ke ʻano o ka mālama ʻana i kēia mai kēlā kanaka a kēia kanaka . Aia ia i nā hōʻailona o ke keiki. I ka manawa pinepine, e mālama kahi hui o nā loea mai nā ʻoihana like ʻole i ke keiki. Hiki i kēia hui ke komo pū me:

• Kauka Puʻuwai - inā loaʻa iā ʻoe nā pilikia puʻuwai.
• He kauka niho, kauka niho palupalu, a kauka ʻoki waha paha - no nā pilikia niho a me ka ʻauwae.
• Endocrinologist - No nā pilikia hormonal e pili ana i ka ulu ʻana o ka genital.
• Kauka Pediatric – E nānā i ke olakino laulā o ke keiki.
• Hoʻōla kino - hoʻomaikaʻi i ka neʻe ʻana a me ka hana o ke kino.
• Kauka ʻoki kino - no nā pilikia me nā iwi a me nā hono.

Hiki ke hana i kēia mau mea ma ke ʻano he lāʻau lapaʻau:

• E hoʻopili i nā kāʻei kūikawā a i ʻole nā ​​​​​​mea hoʻoheheʻe e kākoʻo i nā iwi i hoʻopilikia ʻia.
• E hoʻohana i nā mea kōkua niho kūikawā (nā pale niho a me nā mea hana waha ʻē aʻe) e hoʻoponopono i nā pilikia niho.
• E hāʻawi i ka lāʻau lapaʻau hormone e hoʻoulu i ka ulu ʻana a i ʻole ka ulu ʻana o ka genital.
• E hana i nā hoʻomaʻamaʻa kūikawā e hoʻoikaika i ke kino a hoʻomaikaʻi i ka hana.
• ʻO ke ʻoki kino e hoʻoponopono ai i nā ʻano ʻē i ka iwi a i ʻole nā ​​​​​​wahi hānau.

Ma waho aʻe o kēia mau mea a pau, ke aʻo aku nei nā kauka i nā poʻe me ka Robinow Syndrome a me ko lākou mau ʻohana e ʻimi i ke aʻoaʻo genetic . Hiki i kēia ke kōkua iā lākou e loaʻa kahi ʻike maikaʻi aʻe o ke kūlana, pehea e hoʻoilina ʻia ai, a me nā mea e makaʻala ai i ka wā e loaʻa ai nā keiki i ka wā e hiki mai ana.

Hiki ke pale ʻia ka Robinow Syndrome?

ʻOiaʻiʻo, inā ʻaʻole e hana ʻia nā hoʻāʻo genetic preimplantation ma waena o nā kāne a me nā wahine, ʻaʻohe ala e pale aku ai i ka hoʻololi genetic e hoʻoulu ai i ka Robinow Syndrome. Inā loaʻa iā ʻoe a i ʻole kekahi o kou ʻohana kēia maʻi, ʻo ka mea maikaʻi loa e hana ai, ʻo ia ke kamaʻilio me ke kauka a i ʻole ke kākāʻōlelo genetic. Hiki iā lākou ke aʻo iā ʻoe i nā manawa kūpono e hoʻoili ai i ke ʻano i nā hanauna e hiki mai ana.

He aha ka wā e hiki mai ana o kekahi me ka Robinow Syndrome?

ʻOkoʻa ka wānana no kekahi me kēia maʻi mai kēlā kanaka a kēia kanaka . Aia ia i nā hōʻailona a me ko lākou koʻikoʻi. Hiki i nā pilikia puʻuwai a me nā puʻupaʻa kakaʻikahi ke hoʻopōkole i ka manaʻolana o ke ola. Eia nō naʻe, ola ka hapa nui o ka poʻe i nā ola maʻamau me ka mālama olakino maikaʻi a me ke kākoʻo.

Inā loaʻa ka Robinow Syndrome i kaʻu keiki, he aha hou aʻu e nīnau aku ai i ke kauka?

Inā ua ʻike ʻia ʻoe me kēia maʻi i kāu keiki, hiki iā ʻoe ke nīnau i nā kauka i kēia mau nīnau. He mea kōkua nui kēia iā ʻoe:

• "E ke kauka, he aha ke ʻano o ka Robinow Syndrome i loaʻa i kaʻu keiki? " (ʻO ia hoʻi, he autosomal recessive a dominant paha ia.)
• " Pono anei mākou e noʻonoʻo i ke ʻoki ʻana e hoʻoponopono i nā ʻano ʻē i nā iwi a i ʻole nā ​​​​​​ʻōpū? "
• "E lohi anei ka ulu ʻana o kaʻu keiki?"
• "He pilikia puʻuwai a he pilikia puʻupaʻa paha kou?"
• " He aha ke ʻano o nā loea e pono ai mākou e ʻike? ʻEhia pinepine mākou e ʻike ai iā lākou?"
• " He aha nā hōʻailona e pono ai iaʻu e hopohopo nui? Pono anei au e hoʻokaʻaʻike aku iā ʻoe inā ʻike au i kekahi mea e like me ia?"
• " E hoʻopōkole anei kēia maʻi i ke ola o kaʻu keiki? "
• "Aia kekahi mau hui kākoʻo e hiki ke kōkua iā mākou e ola me kēia kūlana?"
• "Ke paipai nei ʻoe i ke aʻoaʻo hoʻoilina ?"
• "He manaʻo maikaʻi anei ka loaʻa ʻana o ka hoʻāʻo genetic no ke koena o ko mākou ʻohana?"

E hoʻomanaʻo i kēia mau nīnau. ʻO ka nīnau ʻana iā lākou e kōkua iā ʻoe e loaʻa ka lāʻau lapaʻau a me ke kākoʻo maikaʻi loa nou a me kāu keiki.

ʻO ka mea hope loa, nā mea e hoʻomanaʻo ai (Leka Lawe-Home)

He maʻi hoʻoilina laha ʻole ka Robinow Syndrome. Hiki iā ia ke hana i nā ʻano ʻē o ka iwi, nā hiʻohiʻona helehelena ʻokoʻa, nā pilikia genital, a me nā pilikia ʻē aʻe. Mai hopohopo , ʻaʻole kēia he mea e hana ʻia i ka hapa nui o ka poʻe.

Eia nō naʻe, inā manaʻo ʻoe ua loaʻa i kāu keiki kekahi o kēia mau hōʻailona, ​​e ʻike koke i ke kauka kūpono . Hiki i nā loea ke hoʻoponopono i kekahi o nā ʻano ʻē i loko o ka iwi a me nā ʻōpū a kōkua i kāu keiki e hana maikaʻi. Me ka mālama olakino kūpono, ka hoʻōla kino, a me ke aloha a me ke kākoʻo o ka ʻohana, hiki i kēia mau keiki ke hōʻea i ko lākou hiki piha.

ʻO ka maʻi Robino, nā maʻi hoʻoilina, ka ulu ʻana o ke keiki, nā kīnā o ka iwi, nā hiʻohiʻona o ka helehelena, ke aʻo ʻana i nā hoʻoilina, nā maʻi laha ʻole