Brachydactyly-elbow wrist dysplasia syndrome

Brachydactyly-elbow wrist dysplasia syndrome is a rare, genetic bone development disorder characterized by dysplasia of all the bony components of the elbow joint, abnormally shaped carpal bones, wrist joint radial deviation and brachydactyly. Patients typically present with slight flexion at the elbow joints (with impossibilty to perform active extension) and usually associate a limited range of motion of the elbow, wrist and finger articulations. Camptodactyly and syndactyly have also been reported.



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: 11

HPO ID 徴候・症状 頻度
HP:0000256 大頭 Very frequent (99-80%)
HP:0001156 短指症候群 Very frequent (99-80%)
HP:0001231 指爪の異常 Very frequent (99-80%)
HP:0001387 関節拘縮 Very frequent (99-80%)
HP:0002997 尺骨の異常 Very frequent (99-80%)
HP:0003042 肘脱臼 Very frequent (99-80%)
HP:0003063 上腕骨の異常 Very frequent (99-80%)
HP:0004209 第5指弯指 Very frequent (99-80%)
HP:0005048 手根骨癒合症 Very frequent (99-80%)
HP:0006501 橈骨無形成/低形成 Very frequent (99-80%)
HP:0009832 指の末節骨の異常 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: 1

Gene Symbol 遺伝子名 Entrez Gene ID
PITX1 paired like homeodomain 1 5307