Brain malformation-congenital heart disease-postaxial polydactyly syndrome

Goossens-Devriendt syndrome is characterised by intrauterine growth retardation, a congenital heart defect, postaxial polydactyly, a brain malformation, abnormal hair with temporal balding, and marked facial dysmorphism. It has been reported in two siblings from unrelated parents. One of the siblings died and the surviving patient showed postnatal growth retardation and severe developmental delay.



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: 24

HPO ID 徴候・症状 頻度
HP:0000232 下口唇唇紅部外反 Very frequent (99-80%)
HP:0000343 長い人中 Very frequent (99-80%)
HP:0000377 耳介の異常 Very frequent (99-80%)
HP:0000463 上向きの鼻孔 Very frequent (99-80%)
HP:0000582 眼瞼裂斜上 Very frequent (99-80%)
HP:0001162 軸後性多指症 Very frequent (99-80%)
HP:0001252 筋緊張低下 Very frequent (99-80%)
HP:0001511 子宮内成長遅滞 Very frequent (99-80%)
HP:0001629 心室中隔欠損 Very frequent (99-80%)
HP:0004322 低身長 Very frequent (99-80%)
HP:0005280 落ちくぼんだ鼻梁 Very frequent (99-80%)
HP:0008404 爪ジストロフィー Very frequent (99-80%)
HP:0011344 重度の全般性発達遅滞 Very frequent (99-80%)
HP:0000089 腎低形成 Frequent (79-30%)
HP:0001321 小脳低形成 Frequent (79-30%)
HP:0001596 禿頭 Frequent (79-30%)
HP:0001631 心房中隔欠損 Frequent (79-30%)
HP:0002208 粗い毛髪 Frequent (79-30%)
HP:0002299 脆い毛髪 Frequent (79-30%)
HP:0004415 肺動脈狭窄 Frequent (79-30%)
HP:0006610 幅広い乳頭間距離 Frequent (79-30%)
HP:0006817 小脳虫部無形成/低形成 Frequent (79-30%)
HP:0011747 下垂体前葉異常 Occasional (29-5%)
HP:0011757 下垂体後葉低形成 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