Short stature-wormian bones-dextrocardia syndrome

A multiple congenital anomalies syndrome characterized by wormian bones, dextrocardia and short stature due to a growth hormone deficiency. Additional manifestations that have been reported include brachycamptodactyly, kidney hypoplasia, bilateral cryptorchidism, midshaft hypospadias, imperforate anus/anorectal agenesis, body asymmetry, mild developmental delay, hemimegalencephaly and facial dysmorphism (hypotelorism, downslanting palpebral fissures, low-set and posteriorly angulated ears, depressed nasal bridge, and microstomia).



患者の 徴候症状 を入力


症例報告を絞り込む



合計: 2 (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
(39.0%)
15211658
Growth hormone deficiency, anorectal agenesis, and brachycamptodactyly: a phenotype overlapping Stratton-Parker syndrome.
Spadoni E, Castelnovi C, Maraschio P, Stacul E, Beluffi G, Bozzola M, Danesino C.
Am J Med Genet A. 2004;128A(1):57-9.
大槽拡大
GH1
ヒト 下垂体機能低下症 停留精巣 成長ホルモン 症候群 発達障害 直腸 表現型
1
(39.0%)
8209896
Stratton-Parker syndrome: confirmation of a new entity.
Gabrielli O, Carloni I, Catassi C, Natalini G, Coppa GV, Giorgi P.
Am J Med Genet. 1994;49(3):333-6.
ウォルム氏骨
GH1
ヒト 子供 心室中隔欠損症 成長ホルモン 成長障害 症候群 脳室 顔面
        

徴候・症状リスト(Orphanetデータベースから取得)

    合計: 25

HPO ID 徴候・症状 頻度
HP:0000028 停留精巣 Very frequent (99-80%)
HP:0000187 幅広い歯槽隆起 Very frequent (99-80%)
HP:0000218 高口蓋 Very frequent (99-80%)
HP:0000288 人中の異常 Very frequent (99-80%)
HP:0000347 小顎 Very frequent (99-80%)
HP:0000369 耳介低位 Very frequent (99-80%)
HP:0000431 幅広い鼻梁 Very frequent (99-80%)
HP:0000437 落ちくぼんだ鼻尖 Very frequent (99-80%)
HP:0000494 眼瞼裂斜下 Very frequent (99-80%)
HP:0000527 長い睫毛 Very frequent (99-80%)
HP:0000684 歯萌出遅延 Very frequent (99-80%)
HP:0000830 下垂体前葉機能低下症 Very frequent (99-80%)
HP:0001156 短指症候群 Very frequent (99-80%)
HP:0001257 痙性 Very frequent (99-80%)
HP:0001643 動脈管開存症 Very frequent (99-80%)
HP:0001651 右胸心 Very frequent (99-80%)
HP:0002023 鎖肛 Very frequent (99-80%)
HP:0002645 ウォルム氏骨 Very frequent (99-80%)
HP:0004322 低身長 Very frequent (99-80%)
HP:0007477 異常な皮膚紋理 Very frequent (99-80%)
HP:0008678 腎低形成/無形成 Very frequent (99-80%)
HP:0009804 歯数の減少 number of teeth Very frequent (99-80%)
HP:0012854 中軸尿道下裂 Very frequent (99-80%)
HP:0100490 屈指 Very frequent (99-80%)
HP:0100543 認知障害 Very frequent (99-80%)


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:0000824 成長ホルモン欠乏症 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