Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome

A syndrome that combines agammaglobulinemia with marked microcephaly, significant developmental delay, craniosynostosis, a severe dermatitis, cleft palate, narrowing of the choanae, and blepharophimosis. It has been described in three siblings, two males and one female, born to nonconsanguineous parents. Transmission is probably autosomal recessive. It has been suggested that this syndrome represents a new form of agammaglobulinemia due to a defect in early B-cell maturation.



患者の 徴候・症状 を入力


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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: 54

HPO ID 徴候・症状 頻度
HP:0010976 B リンパ球減少症 Very frequent (99-80%)
HP:0000175 口蓋裂 Frequent (79-30%)
HP:0000252 小頭 Frequent (79-30%)
HP:0000347 小顎 Frequent (79-30%)
HP:0000369 耳介低位 Frequent (79-30%)
HP:0000430 鼻翼未発達 Frequent (79-30%)
HP:0000452 後鼻孔狭窄 Frequent (79-30%)
HP:0000581 眼瞼裂狭小 Frequent (79-30%)
HP:0001036 不全角化症 Frequent (79-30%)
HP:0001051 脂漏性皮膚炎 Frequent (79-30%)
HP:0001166 くも指 Frequent (79-30%)
HP:0001263 全般性発達遅滞 Frequent (79-30%)
HP:0001508 成長障害 (成長不全) Frequent (79-30%)
HP:0002098 呼吸窮迫 Frequent (79-30%)
HP:0002850 IgM欠乏症 Frequent (79-30%)
HP:0004440 冠状縫合早期癒合 Frequent (79-30%)
HP:0008897 生後の成長遅滞 Frequent (79-30%)
HP:0011471 乳児期の胃瘻管栄養 Frequent (79-30%)
HP:0025092 Epidermal acanthosis Frequent (79-30%)
HP:0031190 Superficial dermal perivascular inflammatory infiltrate Frequent (79-30%)
HP:0000023 鼠径ヘルニア Occasional (29-5%)
HP:0000028 停留精巣 Occasional (29-5%)
HP:0000054 小陰茎 Occasional (29-5%)
HP:0000126 水腎症 Occasional (29-5%)
HP:0000160 狭い口 Occasional (29-5%)
HP:0000244 短塔状頭 Occasional (29-5%)
HP:0000278 下顎後退 Occasional (29-5%)
HP:0000286 内眼角贅皮 Occasional (29-5%)
HP:0000348 高い額 Occasional (29-5%)
HP:0000431 幅広い鼻梁 Occasional (29-5%)
HP:0000494 眼瞼裂斜下 Occasional (29-5%)
HP:0000883 細い肋骨 Occasional (29-5%)
HP:0000890 長い鎖骨 Occasional (29-5%)
HP:0000954 手掌横線 Occasional (29-5%)
HP:0000964 湿疹 Occasional (29-5%)
HP:0000989 掻痒 Occasional (29-5%)
HP:0001081 胆石症 Occasional (29-5%)
HP:0001344 発語欠損 Occasional (29-5%)
HP:0001511 子宮内成長遅滞 Occasional (29-5%)
HP:0001845 趾の重なり Occasional (29-5%)
HP:0002021 幽門狭窄 Occasional (29-5%)
HP:0002089 肺低形成 Occasional (29-5%)
HP:0002208 粗い毛髪 Occasional (29-5%)
HP:0002240 肝腫大 Occasional (29-5%)
HP:0002506 びまん性大脳萎縮 Occasional (29-5%)
HP:0002594 膵低形成 Occasional (29-5%)
HP:0002949 頚椎癒合 Occasional (29-5%)
HP:0004425 平坦な額 Occasional (29-5%)
HP:0004616 椎弓裂 Occasional (29-5%)
HP:0005365 重症 B リンパ球減少症 Occasional (29-5%)
HP:0006560 胆管過形成 Occasional (29-5%)
HP:0009697 指の遠位指間(DIP)関節拘縮 Occasional (29-5%)
HP:0011682 膜様部周囲心室中隔欠損 Occasional (29-5%)
HP:0012444 脳萎縮 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