Non-distal trisomy 10q

Non-distal trisomy 10q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 10, characterized by mild to moderate developmental delay, postnatal growth retardation, central hypotonia, craniofacial dysmorphism (incl. microcephaly, prominent forehead, flat, thick ear helices, deep-set, small eyes, epicanthus, upturned nose, bow-shaped mouth, highly arched palate, micrognathia), ocular anomalies (e.g. iris coloboma, retinal dysplasia, strabismus), long, slender limbs and skeletal and digital anomalies (scoliosis, poly/syndactyly). Additional features reported include cardiac defects (e.g. septal ventricular defect), anal atresia, and cryptorchidism.



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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: 24

HPO ID 徴候・症状 頻度
HP:0000232 下口唇唇紅部外反 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:0000348 高い額 Very frequent (99-80%)
HP:0000368 低位の後方回転した耳介 Very frequent (99-80%)
HP:0000494 眼瞼裂斜下 Very frequent (99-80%)
HP:0000581 眼瞼裂狭小 Very frequent (99-80%)
HP:0002007 前頭突出, 額突出 Very frequent (99-80%)
HP:0002916 染色体分離の異常 Very frequent (99-80%)
HP:0003196 短い鼻 Very frequent (99-80%)
HP:0004322 低身長 Very frequent (99-80%)
HP:0005280 落ちくぼんだ鼻梁 Very frequent (99-80%)
HP:0005692 関節過伸展 Very frequent (99-80%)
HP:0100543 認知障害 Very frequent (99-80%)
HP:0000028 停留精巣 Frequent (79-30%)
HP:0000218 高口蓋 Frequent (79-30%)
HP:0000248 短頭 Frequent (79-30%)
HP:0000444 凸の鼻梁 Frequent (79-30%)
HP:0000767 漏斗胸 Frequent (79-30%)
HP:0002650 側弯 Frequent (79-30%)
HP:0008056 眼無形成/低形成 Frequent (79-30%)
HP:0000079 尿路異常 Occasional (29-5%)
HP:0002564 心および大血管奇形 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