McDonough syndrome

McDonough syndrome is a rare, multiple congenital anomalies/dysmorphic syndrome characterized by facial dysmorphsim (prominent superciliary arcs, synophrys, strabismus, large, anteverted ears, large nose, malocclusion of teeth), delayed psychomotor development, intellectual disability and congenital heart defects (e.g. pulmonic stenosis, patent ductus arteriosus, atrial septal defect). Additional features include thorax deformation (pectus excavatum/carinatum), kyphoscoliosis, diastasis recti and cryptorchidism. There have been no further descriptions in the literature since 1984.



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
(23.3%)
6147215
Mentally retarded siblings with congenital heart defect, peculiar facies and cryptorchidism in the male: possible McDonough syndrome with coincidental (X; 20) translocation.
Garcia-Sagredo JM, Lozano C, Ferrando P, San Roman C.
Clin Genet. 1984;26(2):117-24.
停留精巣 後側弯
X染色体 ヒト ヒト染色体19-20番 停留精巣 先天性心疾患 子供 成人 症候群 知的障害 顔面
        

徴候・症状リスト(Orphanetデータベースから取得)

    合計: 27

HPO ID 徴候・症状 頻度
HP:0000336 目立つ眼窩上縁 Very frequent (99-80%)
HP:0000400 大耳 Very frequent (99-80%)
HP:0000411 耳介聳立 Very frequent (99-80%)
HP:0000448 目立つ鼻 Very frequent (99-80%)
HP:0000486 斜視 Very frequent (99-80%)
HP:0000664 連続眉毛 Very frequent (99-80%)
HP:0001249 知的障害 Very frequent (99-80%)
HP:0002564 心および大血管奇形 Very frequent (99-80%)
HP:0002650 側弯 Very frequent (99-80%)
HP:0002808 後弯 Very frequent (99-80%)
HP:0004322 低身長 Very frequent (99-80%)
HP:0010318 腹壁筋無形成/低形成 Very frequent (99-80%)
HP:0010807 開放咬合 Very frequent (99-80%)
HP:0000028 停留精巣 Frequent (79-30%)
HP:0000174 口蓋の異常 Frequent (79-30%)
HP:0000303 下顎突出 Frequent (79-30%)
HP:0000316 両眼隔離 Frequent (79-30%)
HP:0000322 短い人中 Frequent (79-30%)
HP:0000347 小顎 Frequent (79-30%)
HP:0000368 低位の後方回転した耳介 Frequent (79-30%)
HP:0000430 鼻翼未発達 Frequent (79-30%)
HP:0000508 眼瞼下垂 Frequent (79-30%)
HP:0000689 不正咬合 Frequent (79-30%)
HP:0000767 漏斗胸 Frequent (79-30%)
HP:0004326 悪液質 (カヘキシー) Frequent (79-30%)
HP:0007598 両側性単一手掌横線 Frequent (79-30%)
HP:0012745 短い眼瞼裂 Frequent (79-30%)


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:0000028 停留精巣 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