Aarskog maʻi maʻi

ʻO ka maʻi ʻo Aarskog kahi maʻi liʻiliʻi loa e pili ana i ke kiʻekiʻe o ke kanaka, nā mākala, nā iwi, nā ʻōiwi, a me nā helehelena. Hiki ke hoʻoili ʻia i waena o nā ʻohana (hoʻoilina).

ʻO ka maʻi ʻo Aarskog kahi maʻi maʻi e pili ana i ka X chromosome. Pili ia i ka nui o nā kāne, akā he ʻano palupalu paha kā nā wahine. Hoʻokumu ʻia kēia ʻano e nā loli (hoʻololi) i kahi ʻāpana i kapa ʻia ʻo "faciogenital dysplasia" (FGD1).

Nā ʻōuli o kēia ʻano:

• Pihi ʻōpū e kū i waho
• Pahu i ke aʻa a i ʻole scrotum
• Hoopanee i ke oʻo moekolohe
• Nā niho lohi
• Holo i lalo nā palpebral i nā maka (palpebral slant ke kuhikuhi o ka slant mai ka waho a i ke kihi o ka maka)
• ʻO ka lauoho me kahi "piko wahine kāne make"
• Umauma lū akahai
• Kahi akahai e hoʻohaʻahaʻa i nā pilikia noʻonoʻo
• Kahi akahai e hoʻohaʻahaʻa i ke kiʻekiʻe pōkole i maopopo ʻole a hiki i ke keiki 1 a 3 mau makahiki
• Hoʻolālā maikaʻi ʻole ʻia ka ʻāpana waena o ka maka
• Helehelena poepoe
• Hoʻopuni ʻo Scrotum i ka penis (shawl scrotum)
• Nā manamana pōkole a me nā manamana wāwae me ka punaewele ʻoluʻolu
• Single lipine ma ka poho o ka lima
• Liʻiliʻi, ākea nā lima a me nā wāwae me nā manamana pōkole a me ka lima ʻelima i kōwili ʻia
• ʻO ka ihu liʻiliʻi me nā pihi ihu i kuʻi i mua
• Nā hōʻike i iho ʻole ʻia (undundered)
• ʻO ka ʻāpana kiʻekiʻe o ka pepeiao i pelu iki ʻia
• Ke ākea ākea ma luna o ka lehelehe luna, lipolo ma lalo o ka lehelehe lalo
• ʻO nā maka ākea me nā lihilihi maka

E hana ʻia paha kēia mau hoʻāʻo:

• Ke hoʻāʻo genetic no ka hoʻololi ʻana i ka FGD1 ʻāpana
• Nā kukuna X

Hiki ke hana i ka neʻe ʻana i nā niho e mālama i kekahi o nā helehelena maʻamau o ke kanaka me Aarskog Syndrome.

Hiki i nā kumuwaiwai aʻe ke hāʻawi i ka ʻike hou aku e pili ana i ka Aarskog Syndrome:

• National Organization for Rare Disorder - rarediseases.org/rare-diseases/aarskog-syndrome
• NIH / NLM Genetics Home Reference - ghr.nlm.nih.gov/condition/aarskog-scott-syndrome

Ua lohi paha ka noʻonoʻo o kekahi poʻe, akā ʻo nā keiki me kēia ʻano loaʻa mau nā mākau kaiaulu maikaʻi. Loaʻa paha i kekahi mau kāne kāne i nā pilikia me ka momona.

Hiki ke hana i kēia mau pilikia:

• Hoʻololi i ka lolo
• Ke ulu nei ka paʻakikī i ka makahiki mua o ke ola
• Nā niho kaulike ʻole
• Ka hopu ʻana i nā maʻi
• Hōkū hōʻike ʻole ʻia

Kāhea i kāu mea mālama ola inā ua hoʻopaneʻe kāu keiki i ka ulu ʻana a i ʻole inā ʻike ʻoe i kekahi hōʻailona o ka maʻi Aarskog. E ʻimi i nā ʻōlelo aʻoaʻo kūlohelohe inā he moʻolelo ʻohana kāu no ka maʻi ʻo Aarskog. Kāhea aku i kāu loea ʻikena inā manaʻo kāu mea hāʻawi iā ʻoe a i ʻole ʻo kāu keiki paha he Aarskog Syndrome.

Hiki ke loaʻa nā hoʻāʻo genetic no ka poʻe me ka mōʻaukala ʻohana o ke ʻano a i ʻole a i ʻole kahi kaulana i ʻike ʻia o ka ʻaoʻao nāna ia i kumu.

Maʻi Aarskog; Maʻi maʻi ʻo Aarskog-Scott; AAS; Faciodigitogenital maʻi; ʻO ka dysplasia Gaciogenital

• Ke alo
• ʻO Pectus excavatum

D'Cunha Burkardt D, Graham JM. Ka nui o ke kino maʻamau a me ka nui. I: Pyeritz RE, Korf BR, Grody WW, eds. Nā Kumumanaʻo a Emery a me Rimoin a me ka Hoʻomaʻamaʻa ʻana i nā Genetics Lapaʻau a me nā Genomics: Nā Manaʻo Haumana a me nā noi.. ʻEpekema 7 Piladelapia, PA: Elsevier; 2019: chap 4.

ʻO Jones KL, ʻo Jones MC, ʻo Del Campo M. ʻO ke kino pōkole, ka helehelena ± genital. I: Jones KL, Jones MC, Del Campo M, hua. Nā Manaʻo Hoʻomaopopo a Smith o ka Malformation Kanaka. ʻEpekema 7 Piladelapia, PA: Elsevier Saunders; 2013: chap D.