Microgastria-limb reduction defect syndrome

Microgastria-limb reduction defect syndrome is a rare multiple congenital anomalies syndrome characterized by congenital microgastria and a uni- or bilateral limb reduction defect, that can include absent or hypoplastic thumbs, radius, ulna and/or amelia. Association with other variable abnormalities, including intestinal malrotation, asplenia, dysplastic kidneys, hypoplastic lungs, dysplastic corpus collosum, and abnormal genitalia, has been reported.



患者の 徴候・症状 を入力


症例報告を絞り込む



合計: 0 （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)
        

徴候・症状リスト（Orphanetデータベースから取得）

    合計: 48

HPO ID 徴候・症状 頻度
HP:0001508 成長障害 (成長不全) Very frequent (99-80%)
HP:0001510 成長遅滞 Very frequent (99-80%)
HP:0001743 脾の異常 Very frequent (99-80%)
HP:0002020 胃食道逆流 Very frequent (99-80%)
HP:0002036 裂孔ヘルニア Very frequent (99-80%)
HP:0002818 橈骨の異常 Very frequent (99-80%)
HP:0009778 短い母指 Very frequent (99-80%)
HP:0011968 食餌摂取障害 Very frequent (99-80%)
HP:0100633 食道炎 Very frequent (99-80%)
HP:0100841 小胃 Very frequent (99-80%)
HP:0000003 多嚢胞腎異形成 Frequent (79-30%)
HP:0000110 腎異形成 Frequent (79-30%)
HP:0001163 中手骨の異常 Frequent (79-30%)
HP:0001167 指の異常 Frequent (79-30%)
HP:0001357 斜頭 Frequent (79-30%)
HP:0002007 前頭突出, 額突出 Frequent (79-30%)
HP:0003063 上腕骨の異常 Frequent (79-30%)
HP:0005988 先天性筋性斜頚 Frequent (79-30%)
HP:0011220 目立つ額 Frequent (79-30%)
HP:0000085 馬蹄腎 Occasional (29-5%)
HP:0000104 腎無発生 Occasional (29-5%)
HP:0000143 直腸膣瘻 Occasional (29-5%)
HP:0000528 無眼球 Occasional (29-5%)
HP:0000568 小眼球 Occasional (29-5%)
HP:0001274 脳梁無発生 Occasional (29-5%)
HP:0001331 透明中隔欠損 Occasional (29-5%)
HP:0001631 心房中隔欠損 Occasional (29-5%)
HP:0001660 総動脈幹 Occasional (29-5%)
HP:0002023 鎖肛 Occasional (29-5%)
HP:0002032 食道閉鎖 Occasional (29-5%)
HP:0002101 肺分葉の異常 Occasional (29-5%)
HP:0002139 無嗅脳症 Occasional (29-5%)
HP:0002240 肝腫大 Occasional (29-5%)
HP:0002536 異常な皮質脳回形成 Occasional (29-5%)
HP:0002566 腸回転異常 Occasional (29-5%)
HP:0002575 気管食道瘻 Occasional (29-5%)
HP:0003042 肘脱臼 Occasional (29-5%)
HP:0004050 手欠損 Occasional (29-5%)
HP:0004736 交叉癒合性異所性腎 Occasional (29-5%)
HP:0004871 会陰瘻 Occasional (29-5%)
HP:0006660 鎖骨無形成 Occasional (29-5%)
HP:0008678 腎低形成/無形成 Occasional (29-5%)
HP:0009827 無肢症 Occasional (29-5%)
HP:0009829 アザラシ肢 Occasional (29-5%)
HP:0012165 乏指趾症 Occasional (29-5%)
HP:0025023 Rectal atresia Occasional (29-5%)
HP:0030680 Abnormality of cardiovascular system morphology Occasional (29-5%)
HP:0100257 欠指 Occasional (29-5%)


徴候・症状リスト（症例報告から取得）

    合計: 0

HPO ID 徴候・症状 症例報告数


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