Symbrachydactyly of hands and feet

Symbrachydactyly of hands and feet is a rare, non-syndromic limb reduction defect disorder characterized by unilateral or bilateral brachydactyly, cutaneous syndactyly and global hypoplasia of the hand and/or foot, with underlying muscles, tendons, ligaments and bones being affected but without other associated limb anomalies. Patients typically present short, stiff, webbed or missing fingers and/or toes which are often replaced with small stumps (nubbins) with residual nails.



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: 8

HPO ID 徴候・症状 頻度
HP:0009800 母体糖尿病 Very frequent (99-80%)
HP:0100745 上腕骨尺骨関節の異常 Very frequent (99-80%)
HP:0002650 側弯 Frequent (79-30%)
HP:0002997 尺骨の異常 Frequent (79-30%)
HP:0003063 上腕骨の異常 Frequent (79-30%)
HP:0003422 脊椎分節異常 Frequent (79-30%)
HP:0006501 橈骨無形成/低形成 Frequent (79-30%)
HP:0009601 母指無形成/低形成 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