Lethal Kniest-like dysplasia

A rare, lethal, congenital, chondrodysplasia disorder characterized by dumbbell-shaped long bones with markedly shortened diaphyses and metaphyseal irregularities associated with a "Swiss cheese" appearance of the cartilage matrix, as well as distinctive changes in the growth plate and resting cartilage, resulting in death in the neonatal period. There have been no further descriptions in the literature since 1983.



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:0000175 口蓋裂 Frequent (79-30%)
HP:0000256 大頭 Frequent (79-30%)
HP:0000260 幅広い大泉門 Frequent (79-30%)
HP:0000369 耳介低位 Frequent (79-30%)
HP:0000470 短い頸部 Frequent (79-30%)
HP:0000773 短い肋骨 Frequent (79-30%)
HP:0000774 狭い胸郭 Frequent (79-30%)
HP:0000907 前方肋骨カッピング Frequent (79-30%)
HP:0000926 扁平脊椎 Frequent (79-30%)
HP:0000946 腸骨低形成 Frequent (79-30%)
HP:0000969 浮腫 Frequent (79-30%)
HP:0001156 短指症候群 Frequent (79-30%)
HP:0001538 腹部突出 Frequent (79-30%)
HP:0001561 羊水過多 Frequent (79-30%)
HP:0001623 骨盤位 Frequent (79-30%)
HP:0001631 心房中隔欠損 Frequent (79-30%)
HP:0001762 内反尖足 Frequent (79-30%)
HP:0002763 軟骨形態異常 Frequent (79-30%)
HP:0003015 骨幹端フレア Frequent (79-30%)
HP:0003174 坐骨の異常 Frequent (79-30%)
HP:0003417 冠状脊椎裂 Frequent (79-30%)
HP:0005026 四肢中部短縮/四肢近位短縮性四肢短縮 Frequent (79-30%)
HP:0005622 幅広い長管骨 Frequent (79-30%)
HP:0008178 軟骨基質異常 Frequent (79-30%)
HP:0008479 椎体骨低形成 Frequent (79-30%)
HP:0008890 重度の短肢小人症 Frequent (79-30%)
HP:0012368 平坦な顔 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