Imperforate oropharynx-costovertebral anomalies syndrome

Imperforate oropharynx-costovertebral anomalies syndrome is a dysostosis with predominant vertebral and costal involvement characterized by oropharyngeal atresia, mild mandibulofacial dysostosis, auricular malformations, and costovertebral anomalies (hemivertebrae, block vertebra, partial fusion of the ribs, absent ribs). There have been no further descriptions in the literature since 1989.



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: 27

HPO ID 徴候・症状 頻度
HP:0000153 口の異常 Very frequent (99-80%)
HP:0000159 口唇の異常 Very frequent (99-80%)
HP:0000288 人中の異常 Very frequent (99-80%)
HP:0000358 耳介後方回転 Very frequent (99-80%)
HP:0000369 耳介低位 Very frequent (99-80%)
HP:0000600 咽頭の異常 Very frequent (99-80%)
HP:0000772 肋骨の異常 Very frequent (99-80%)
HP:0000921 肋骨欠損 Very frequent (99-80%)
HP:0002094 呼吸困難 Very frequent (99-80%)
HP:0002098 呼吸窮迫 Very frequent (99-80%)
HP:0002205 反復性呼吸器感染症 Very frequent (99-80%)
HP:0002878 呼吸不全 Very frequent (99-80%)
HP:0002937 半脊椎 Very frequent (99-80%)
HP:0003312 椎体骨形態異常 Very frequent (99-80%)
HP:0000286 内眼角贅皮 Frequent (79-30%)
HP:0000396 耳輪の過剰な巻き込み Frequent (79-30%)
HP:0000431 幅広い鼻梁 Frequent (79-30%)
HP:0000453 後鼻孔閉鎖 Frequent (79-30%)
HP:0000494 眼瞼裂斜下 Frequent (79-30%)
HP:0001166 くも指 Frequent (79-30%)
HP:0001561 羊水過多 Frequent (79-30%)
HP:0001622 早産 Frequent (79-30%)
HP:0004209 第5指弯指 Frequent (79-30%)
HP:0005692 関節過伸展 Frequent (79-30%)
HP:0009896 対耳珠の異常 Frequent (79-30%)
HP:0010295 舌の無形成/低形成 Frequent (79-30%)
HP:0011302 長い手掌 Frequent (79-30%)


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