Humero-radio-ulnar synostosis

Humero-radio-ulnar synostosis is an extremely rare, genetic, congenital joint formation defect disorder characterized by uni- or bilateral fusion of the humerus, radius and ulnar bones, leading to loss of elbow motion and, in most, functional arm incapacity. It may appear as distal humeral bifurcation with absent elbow joint and shortened arm length on imaging. Hand abnormalities, namely oligoectrosyndactyly, may be associated.



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: 9

HPO ID 徴候・症状 頻度
HP:0000069 尿管異常 Very frequent (99-80%)
HP:0001048 海綿状血管腫 Very frequent (99-80%)
HP:0001163 中手骨の異常 Very frequent (99-80%)
HP:0001172 母指の異常 Very frequent (99-80%)
HP:0002974 橈尺骨癒合 Very frequent (99-80%)
HP:0003070 肘強直 Very frequent (99-80%)
HP:0009601 母指無形成/低形成 Very frequent (99-80%)
HP:0010935 上部尿路異常 Very frequent (99-80%)
HP:0100560 上肢非対称 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