Sirenomelia

Sirenomelia is a rare, genetic, developmental defect during embryogenesis disorder characterized by fusion of the lower limbs and associated with some degree of lower extremity reduction and persistent vitelline artery. Patients also present severe malformations of the musculoskeletal system (e.g. sacral agenesis), as well as the urogenital and lower gastrointestinal tracts (e.g. renal agenesis, absent bladder, rectal/anal atresia, and absent internal genitalia). Most cases are stillborn, or die during, or shortly after, birth.



患者の 徴候症状 を入力


症例報告を絞り込む



合計: 93 (症例報告)

  


(表示件数)
対応する徴候・症状  遺伝子  変異  キーワード(MeSH)
順位
(類似度)
PMID
(PMCID)
10
(4.0%)
26023366
(4420302)
Sirenomelia: a rare presentation.
Reddy KR, Srinivas S, Kumar S, Reddy S, Prasad H, Irfan GM.
J Neonatal Surg. 2012;1(1):7.
外性器欠損
10
(4.0%)
25976191
Sirenomelia type VI (sympus apus) in one of dizygotic twins at Chiang Mai University Hospital.
Nokeaingtong K, Kaewchai S, Visrutaratna P, Khuwuthyakorn V.
BMJ Case Rep. 2015;2015:.
外性器欠損
ヒト 体外受精 双胎妊娠 奇肢症 妊娠 新生児 致死的転帰
10
(4.0%)
25810681
(4367057)
Sirenomelia: The mermaid syndrome: Report of two cases.
Samal SK, Rathod S.
J Nat Sci Biol Med. 2015;6(1):264-6.
糖尿病
10
(4.0%)
25322991
A rare association: Sirenomelia with adrenalomegaly in an infant of diabetic mother.
Ozturk MA, Bastug O, Halis H, Korkmaz L, Memur S, Sarici D, Kara A.
J Neonatal Perinatal Med. 2014;7(3):253-6.
外性器欠損
2型糖尿病 ヒト 先天性下肢変形 副腎 奇肢症 妊娠 成人 新生児 糖尿病患者の妊娠 肥大 致死的転帰
10
(4.0%)
24656289
Sirenomelia with associated systemic anomalies: an autopsy pathologic illustration of a series of four cases.
Chikkannaiah P, Mahadevan A, Gosavi M, Kangle R, Anuradha , Shankar SK.
Pathol Res Pract. 2014;210(7):444-9.
単一臍帯動脈
ヒト 先天性下肢変形 剖検 奇肢症 胎児
10
(4.0%)
24627759
(3917649)
Sirenomelia in a Cameroonian woman: a case report and review of the literature.
Morfaw FL, Nana PN.
F1000Res. 2012;1:6.
前期破水
10
(4.0%)
24281983
Diagnosis of sirenomelia in the first trimester.
Singh C, Lodha P, Arora D, Prabhu Sharma A, Kaul A.
J Clin Ultrasound. 2014;42(6):355-9.
羊水過少
カウンセリング ヒト 優生手術 先天性下肢変形 出生前超音波検査 出産児数 奇肢症 妊娠 妊娠初期 希少疾患 若年成人 超音波カラードプラ
10
(4.0%)
24027732
(3762055)
Sirenomelia: a rare case of foetal congenital anomaly.
Dharmraj M, Gaur S.
J Clin Neonatol. 2012;1(4):221-3.
腎異常
10
(4.0%)
23836580
Fetal MRI as a complementary technique after prenatal diagnosis of persistent vitelline artery in an otherwise normal fetus.
Bravo C, De Leon-Luis J, Gamez F, Ruiz Y, Pintado P, Perez R, Ortiz-Quintana L.
J Magn Reson Imaging. 2013;38(4):951-4.
単一臍帯動脈
ヒト 出生前超音波検査 妊娠 新生児 磁気共鳴画像法
10
(4.0%)
23776071
Sirenomelia after phenobarbital and carbamazepine therapy in pregnancy.
Tica OS, Tica AA, Brailoiu CG, Cernea N, Tica VI.
Birth Defects Res A Clin Mol Teratol. 2013;97(6):425-8.
単一臍帯動脈
てんかん ヒト 奇肢症 妊娠 致死的転帰 薬物性奇形
        

徴候・症状リスト(Orphanetデータベースから取得)

    合計: 10

HPO ID 徴候・症状 頻度
HP:0000062 性別不明の外性器 Very frequent (99-80%)
HP:0000079 尿路異常 Very frequent (99-80%)
HP:0002023 鎖肛 Very frequent (99-80%)
HP:0008678 腎低形成/無形成 Very frequent (99-80%)
HP:0010305 仙骨欠損 Very frequent (99-80%)
HP:0010497 人魚肢 Very frequent (99-80%)
HP:0001626 心血管系 Frequent (79-30%)
HP:0002414 二分脊椎 Frequent (79-30%)
HP:0002575 気管食道瘻 Frequent (79-30%)
HP:0006501 橈骨無形成/低形成 Frequent (79-30%)


徴候・症状リスト(症例報告から取得)

    合計: 23

HPO ID 徴候・症状 症例報告数
HP:0001562 羊水過少 16
HP:0001195 単一臍帯動脈 15
HP:0002323 無脳症 6
HP:0000819 糖尿病 5
HP:0009800 母体糖尿病 4
HP:0000042 外性器欠損 3
HP:0002023 鎖肛 3
HP:0000062 性別不明の外性器 1
HP:0000077 腎異常 1
HP:0000126 水腎症 1
HP:0000238 水頭症 1
HP:0000789 不妊 1
HP:0001155 手の異常 1
HP:0001274 脳梁無発生 1
HP:0001511 子宮内成長遅滞 1
HP:0001788 前期破水 1
HP:0002089 肺低形成 1
HP:0002414 二分脊椎 1
HP:0002575 気管食道瘻 1
HP:0004383 左心低形成 1
HP:0010442 多指趾症 1
HP:0012621 持続性総排泄腔 1
HP:0012732 肛門直腸奇形 1


疾患原因遺伝子リスト(Orphanetデータベースから取得)

    合計: 0

Gene Symbol 遺伝子名 Entrez Gene ID