Craniolenticulosutural dysplasia

Craniolenticulosutural dysplasia (CLSD), also known as Boyadjiev-Jabs syndrome, is characterized by the specific association of large and late-closing fontanels, hypertelorism, early-onset cataract and mild generalized skeletal dysplasia.



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: 34

HPO ID 徴候・症状 頻度
HP:0000154 幅広い口 Very frequent (99-80%)
HP:0000233 薄い唇紅部縁 Very frequent (99-80%)
HP:0000239 大きな泉門 Very frequent (99-80%)
HP:0000316 両眼隔離 Very frequent (99-80%)
HP:0000319 平坦な人中 Very frequent (99-80%)
HP:0000327 上顎低形成 Very frequent (99-80%)
HP:0000336 目立つ眼窩上縁 Very frequent (99-80%)
HP:0000343 長い人中 Very frequent (99-80%)
HP:0000426 目立つ鼻梁 Very frequent (99-80%)
HP:0000445 幅広い鼻 Very frequent (99-80%)
HP:0000670 齲歯 Very frequent (99-80%)
HP:0000684 歯萌出遅延 Very frequent (99-80%)
HP:0000685 歯低形成 Very frequent (99-80%)
HP:0000691 小歯 Very frequent (99-80%)
HP:0002007 前頭突出, 額突出 Very frequent (99-80%)
HP:0002208 粗い毛髪 Very frequent (99-80%)
HP:0002299 脆い毛髪 Very frequent (99-80%)
HP:0002650 側弯 Very frequent (99-80%)
HP:0002652 骨格異形成 Very frequent (99-80%)
HP:0004322 低身長 Very frequent (99-80%)
HP:0004331 頭蓋骨骨化減少 Very frequent (99-80%)
HP:0006480 早発性歯喪失 Very frequent (99-80%)
HP:0008031 後部Y縫合白内障 Very frequent (99-80%)
HP:0008070 疎な毛髪 Very frequent (99-80%)
HP:0008444 楔型の後部椎体骨 Very frequent (99-80%)
HP:0008808 高い腸骨翼 Very frequent (99-80%)
HP:0000774 狭い胸郭 Frequent (79-30%)
HP:0000953 皮膚高色素 Frequent (79-30%)
HP:0001000 皮膚色素の異常 Frequent (79-30%)
HP:0001763 扁平足 Frequent (79-30%)
HP:0005306 毛細血管血管腫 Frequent (79-30%)
HP:0000218 高口蓋 Occasional (29-5%)
HP:0000750 発語および言語発達遅延 Occasional (29-5%)
HP:0005692 関節過伸展 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: 1

Gene Symbol 遺伝子名 Entrez Gene ID
SEC23A Sec23 homolog A, coat complex II component 10484