Growth delay-hydrocephaly-lung hypoplasia syndrome

Growth delay - hydrocephaly - lung hypoplasia, also named Game-Friedman-Paradice syndrome, is a rare developmental disorder described in 4 sibs so far and characterized by delayed fetal growth, hydrocephaly with patent aqueduct of Sylvius, underdeveloped lungs and various other anomalies such as small jaw, intestinal malrotation, omphalocele, shortness of lower limbs, bowed tibias and foot deformities.



患者の 徴候・症状 を入力


症例報告を絞り込む



合計: 1 （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)
1
(4.0%)		 23386950
 A case of congenital syndromic hydrocephalus: a subtype of 'game-friedman-paradice syndrome'.
Jana TK, Roy H, Giri S.
Oman Med J. 2013;28(1):63-6.
水頭症
        

徴候・症状リスト（Orphanetデータベースから取得）

    合計: 17

HPO ID 徴候・症状 頻度
HP:0000347 小顎 Very frequent (99-80%)
HP:0001511 子宮内成長遅滞 Very frequent (99-80%)
HP:0001539 臍帯ヘルニア Very frequent (99-80%)
HP:0002089 肺低形成 Very frequent (99-80%)
HP:0002410 水道狭窄 Very frequent (99-80%)
HP:0002566 腸回転異常 Very frequent (99-80%)
HP:0002814 下肢の異常 Very frequent (99-80%)
HP:0002986 橈側湾曲 Very frequent (99-80%)
HP:0006487 長管骨湾曲 Very frequent (99-80%)
HP:0009816 下肢発育不全 Very frequent (99-80%)
HP:0000582 眼瞼裂斜上 Occasional (29-5%)
HP:0000772 肋骨の異常 Occasional (29-5%)
HP:0001744 脾腫 Occasional (29-5%)
HP:0002514 大脳石灰化 Occasional (29-5%)
HP:0002982 脛骨湾曲 Occasional (29-5%)
HP:0002991 腓骨の異常 Occasional (29-5%)
HP:0100569 脊椎骨骨化異常 Occasional (29-5%)


徴候・症状リスト（症例報告から取得）

    合計: 1

HPO ID 徴候・症状 症例報告数
HP:0000238 水頭症 1


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