Dislocation of the hip-dysmorphism syndrome

Dislocation of the hip-dysmorphism syndrome is a rare multiple congenital anomalies syndrome characterized by bilateral congenital dislocation of the hip, characteristic facial features (flat mid-face, hypertelorism, epicanthus, puffiness around the eyes, broad nasal bridge, carp-shaped mouth), and joint hyperextensibility. Congenital heart defects, congenital dislocation of the knee, congenital inguinal hernia, and vesicoureteric reflux have also been reported. There have been no further descriptions in the literature since 1995.



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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: 20

HPO ID 徴候・症状 頻度
HP:0000160 狭い口 Frequent (79-30%)
HP:0000174 口蓋の異常 Frequent (79-30%)
HP:0000272 平坦な頬 Frequent (79-30%)
HP:0000286 内眼角贅皮 Frequent (79-30%)
HP:0000316 両眼隔離 Frequent (79-30%)
HP:0000364 聴覚異常 Frequent (79-30%)
HP:0000431 幅広い鼻梁 Frequent (79-30%)
HP:0000457 落ちくぼんだ鼻梁 Frequent (79-30%)
HP:0000463 上向きの鼻孔 Frequent (79-30%)
HP:0001374 先天性股関節脱臼 Frequent (79-30%)
HP:0001671 心中隔 Frequent (79-30%)
HP:0001702 三尖弁の異常 Frequent (79-30%)
HP:0004097 指偏位 Frequent (79-30%)
HP:0005692 関節過伸展 Frequent (79-30%)
HP:0010759 前上顎突出 Frequent (79-30%)
HP:0000023 鼠径ヘルニア Occasional (29-5%)
HP:0000079 尿路異常 Occasional (29-5%)
HP:0001643 動脈管開存症 Occasional (29-5%)
HP:0002815 膝の異常 Occasional (29-5%)
HP:0011328 泉門異常 Occasional (29-5%)


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