Craniosynostosis, Herrmann-Opitz type

Craniosynostosis, Herrmann-Opitz type is a rare bone development disorder characterized by intellectual disability, short stature, turribrachycephaly, facial dysmorphism (i.e. severe hypertelorism, hypoplasia of supraorbital ridges, abnormal ears, and micrognathia), bony defects of the occiput, and digital anomalies (incl. syndactyly, oligodactyly, and/or brachydactyly). Urethral atresia has also been reported. There have been no further descriptions in the literature since 1987.



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: 24

HPO ID 徴候・症状 頻度
HP:0000248 短頭 Very frequent (99-80%)
HP:0000262 塔状頭 Very frequent (99-80%)
HP:0000316 両眼隔離 Very frequent (99-80%)
HP:0000347 小顎 Very frequent (99-80%)
HP:0001171 裂手 Very frequent (99-80%)
HP:0001511 子宮内成長遅滞 Very frequent (99-80%)
HP:0002983 小肢症 Very frequent (99-80%)
HP:0004322 低身長 Very frequent (99-80%)
HP:0006101 合指症 Very frequent (99-80%)
HP:0100543 認知障害 Very frequent (99-80%)
HP:0000175 口蓋裂 Frequent (79-30%)
HP:0000272 平坦な頬 Frequent (79-30%)
HP:0000444 凸の鼻梁 Frequent (79-30%)
HP:0000465 翼状頚 Frequent (79-30%)
HP:0000772 肋骨の異常 Frequent (79-30%)
HP:0000795 尿道異常 Frequent (79-30%)
HP:0001156 短指症候群 Frequent (79-30%)
HP:0001363 Craniosynostosis Frequent (79-30%)
HP:0001562 羊水過少 Frequent (79-30%)
HP:0003196 短い鼻 Frequent (79-30%)
HP:0006703 肺無形成/低形成 Frequent (79-30%)
HP:0008551 小耳 Frequent (79-30%)
HP:0009738 対耳輪の異常 Frequent (79-30%)
HP:0010935 上部尿路異常 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