Infantile spasms-broad thumbs syndrome

Infantile spasms-broad thumbs syndrome is a rare neurologic disorder characterized by profound developmental delay, facial dysmorphism (i.e. microcephaly, large anterior fontanel, hypertelorism, downslanting palpebral fissures, beaked nose, micrognathia), broad thumbs and flexion and/or extension spasms. Bilateral cataracts, hypertrophic cardiomyopathy and hydrocele have also been reported. EEG shows hypsarrhythmic features and MRI may reveal partial agenesis of the corpus callosum, mild brain atrophy and/or ventriculomegaly. There have been no further descriptions in the literature since 1990.



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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: 15

HPO ID 徴候・症状 頻度
HP:0000235 泉門と頭蓋骨縫合の異常 Very frequent (99-80%)
HP:0000252 小頭 Very frequent (99-80%)
HP:0000316 両眼隔離 Very frequent (99-80%)
HP:0000347 小顎 Very frequent (99-80%)
HP:0000444 凸の鼻梁 Very frequent (99-80%)
HP:0000494 眼瞼裂斜下 Very frequent (99-80%)
HP:0000518 白内障 Very frequent (99-80%)
HP:0000543 視神経杯蒼白 Very frequent (99-80%)
HP:0001250 発作 Very frequent (99-80%)
HP:0001639 肥大型心筋症 Very frequent (99-80%)
HP:0002120 大脳皮質萎縮 Very frequent (99-80%)
HP:0002353 脳波異常 Very frequent (99-80%)
HP:0007370 脳梁無形成/低形成 Very frequent (99-80%)
HP:0011304 幅広い母指 Very frequent (99-80%)
HP:0100672 膣ヘルニア Very frequent (99-80%)


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