Hennekam-Beemer syndrome

Hennekam-Beemer syndrome is characterized by the association of skin mastocytosis (appearing as diffuse pigmentation), short stature, microcephaly, conductive hearing loss, and dysmorphic features. It has been described in only two (female) cases: one with normal mental development born to consanguineous parents and the other with severe psychomotor retardation born to unrelated parents. The mode of inheritance is most likely autosomal recessive.



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: 52

HPO ID 徴候・症状 頻度
HP:0000179 分厚い下口唇唇紅部 Very frequent (99-80%)
HP:0000218 高口蓋 Very frequent (99-80%)
HP:0000252 小頭 Very frequent (99-80%)
HP:0000270 頭蓋骨縫合閉鎖遅延 Very frequent (99-80%)
HP:0000325 三角形の顔 Very frequent (99-80%)
HP:0000347 小顎 Very frequent (99-80%)
HP:0000365 難聴 Very frequent (99-80%)
HP:0000405 伝音難聴 Very frequent (99-80%)
HP:0000520 眼球突出 Very frequent (99-80%)
HP:0000582 眼瞼裂斜上 Very frequent (99-80%)
HP:0000648 視神経萎縮 Very frequent (99-80%)
HP:0000989 掻痒 Very frequent (99-80%)
HP:0001000 皮膚色素の異常 Very frequent (99-80%)
HP:0001025 蕁麻疹 Very frequent (99-80%)
HP:0001250 発作 Very frequent (99-80%)
HP:0001252 筋緊張低下 Very frequent (99-80%)
HP:0001284 無反射 Very frequent (99-80%)
HP:0001482 皮下結節 Very frequent (99-80%)
HP:0001508 成長障害 (成長不全) Very frequent (99-80%)
HP:0002027 腹痛 Very frequent (99-80%)
HP:0002119 脳室拡大 Very frequent (99-80%)
HP:0004209 第5指弯指 Very frequent (99-80%)
HP:0004322 低身長 Very frequent (99-80%)
HP:0007400 不規則な高色素 Very frequent (99-80%)
HP:0007440 全身性高色素 Very frequent (99-80%)
HP:0008551 小耳 Very frequent (99-80%)
HP:0010783 紅斑 Very frequent (99-80%)
HP:0012733 斑 Very frequent (99-80%)
HP:0100490 屈指 Very frequent (99-80%)
HP:0100495 肥満細胞症 Very frequent (99-80%)
HP:0200034 丘疹 Very frequent (99-80%)
HP:0000336 目立つ眼窩上縁 Occasional (29-5%)
HP:0000431 幅広い鼻梁 Occasional (29-5%)
HP:0000445 幅広い鼻 Occasional (29-5%)
HP:0000737 被刺激性 Occasional (29-5%)
HP:0000924 骨格の異常 Occasional (29-5%)
HP:0001072 分厚い皮膚 Occasional (29-5%)
HP:0001249 知的障害 Occasional (29-5%)
HP:0002013 嘔吐 Occasional (29-5%)
HP:0002090 肺炎 Occasional (29-5%)
HP:0002093 呼吸不全 Occasional (29-5%)
HP:0002615 低血圧 Occasional (29-5%)
HP:0002650 側弯 Occasional (29-5%)
HP:0003189 長い鼻 Occasional (29-5%)
HP:0011344 重度の全般性発達遅滞 Occasional (29-5%)
HP:0011675 不整脈 Occasional (29-5%)
HP:0012378 疲労 Occasional (29-5%)
HP:0100326 免疫学的過敏性 Occasional (29-5%)
HP:0100559 下肢非対称 Occasional (29-5%)
HP:0100585 皮膚毛細血管拡張 Occasional (29-5%)
HP:0100725 苔癬化 Occasional (29-5%)
HP:0200037 皮膚小水疱 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