Craniofaciofrontodigital syndrome

Craniofaciofrontodigital syndrome is a rare multiple congenital anomalies syndrome characterized by mild intellectual disability, short stature, cardiac anomalies, mild dysmorphic features (macrocephaly, prominent forehead, hypertelorism, exophthalmos), cutis laxa, joint hyperlaxity, wrinkled palms and soles and skeletal anomalies (sella turcica, wide ribs and small vertebral bodies).



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:0000098 高身長 Very frequent (99-80%)
HP:0000280 粗な顔貌 Very frequent (99-80%)
HP:0000286 内眼角贅皮 Very frequent (99-80%)
HP:0000343 長い人中 Very frequent (99-80%)
HP:0000463 上向きの鼻孔 Very frequent (99-80%)
HP:0000574 分厚い眉毛 Very frequent (99-80%)
HP:0000772 肋骨の異常 Very frequent (99-80%)
HP:0000774 狭い胸郭 Very frequent (99-80%)
HP:0001007 多毛 Very frequent (99-80%)
HP:0001156 短指症候群 Very frequent (99-80%)
HP:0001172 母指の異常 Very frequent (99-80%)
HP:0001626 心血管系 Very frequent (99-80%)
HP:0002750 骨格骨化遅延 Very frequent (99-80%)
HP:0003043 肩の異常 Very frequent (99-80%)
HP:0003272 寛骨の異常 Very frequent (99-80%)
HP:0008479 椎体骨低形成 Very frequent (99-80%)
HP:0012471 分厚い唇紅部縁 Very frequent (99-80%)
HP:0100252 骨幹異形成 Very frequent (99-80%)
HP:0000431 幅広い鼻梁 Frequent (79-30%)
HP:0001537 臍ヘルニア Frequent (79-30%)
HP:0003196 短い鼻 Frequent (79-30%)
HP:0011431 胎児第5指弯指 Frequent (79-30%)
HP:0000023 鼠径ヘルニア Occasional (29-5%)
HP:0002007 前頭突出, 額突出 Occasional (29-5%)
HP:0002240 肝腫大 Occasional (29-5%)
HP:0009804 歯数の減少 number of teeth Occasional (29-5%)
HP:0011220 目立つ額 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