Rhizomelic dysplasia, Patterson-Lowry type

Rhizomelic dysplasia, Patterson-Lowry type is a rare primary bone dysplasia characterized by short stature, severe rhizomelic shortening of the upper limbs associated with specific malformations of humeri (including marked widening and flattening of proximal metaphyses, medial flattening of the proximal epiphyses, and lateral bowing with medial cortical thickening of the proximal diaphyses), marked coxa vara with dysplastic femoral heads and brachimetacarpalia.



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: 17

HPO ID 徴候・症状 頻度
HP:0000286 内眼角贅皮 Very frequent (99-80%)
HP:0000303 下顎突出 Very frequent (99-80%)
HP:0000445 幅広い鼻 Very frequent (99-80%)
HP:0000457 落ちくぼんだ鼻梁 Very frequent (99-80%)
HP:0001156 短指症候群 Very frequent (99-80%)
HP:0002812 内反股 Very frequent (99-80%)
HP:0002857 外反膝 Very frequent (99-80%)
HP:0003196 短い鼻 Very frequent (99-80%)
HP:0003307 前弯 Very frequent (99-80%)
HP:0003312 椎体骨形態異常 Very frequent (99-80%)
HP:0004097 指偏位 Very frequent (99-80%)
HP:0005687 変形した上腕骨頭 Very frequent (99-80%)
HP:0005792 短い上腕骨 Very frequent (99-80%)
HP:0008905 四肢近位短縮 Very frequent (99-80%)
HP:0010049 短い中手骨 Very frequent (99-80%)
HP:0012368 平坦な顔 Very frequent (99-80%)
HP:0100729 大きな顔 Very frequent (99-80%)


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