Cleft palate-short stature-vertebral anomalies syndrome

Cleft palate- short stature- vertebral anomalies is a multiple congenital anomalies syndrome described in a father and son characterized by the association of cleft palate, peculiar facies (asymmetrical appearance, inner epicanthal folds, short nose, anteverted nostrils, low and back-oriented ears, thin upper lip and micrognathism), short stature, short neck , vertebral anomalies and intellectual disability. The transmission is presumed to be autosomal dominant. There have been no further descriptions in the literature since 1993.



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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: 11

HPO ID 徴候・症状 頻度
HP:0000175 口蓋裂 Frequent (79-30%)
HP:0000219 薄い上口唇唇紅部 Frequent (79-30%)
HP:0000286 内眼角贅皮 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:0000463 上向きの鼻孔 Frequent (79-30%)
HP:0000470 短い頸部 Frequent (79-30%)
HP:0001249 知的障害 Frequent (79-30%)
HP:0003196 短い鼻 Frequent (79-30%)
HP:0003468 脊椎の異常 Frequent (79-30%)
HP:0004322 低身長 Frequent (79-30%)


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