Cortical blindness-intellectual disability-polydactyly syndrome

A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by congenital, total, cortical blindness, intellectual disability, postaxial polydactyly of the hands and feet, pre- and postnatal growth delay, psychomotor developmental retardation, and mild facial dysmorphism (incl. prominent forehead, short nose, long philtrum, high-arched palate, and microretrognathia). Recurrent respiratory and intestinal infections, as well as moderate hypertonia and hyperreflexia, are also associated. There have been no further descriptions in the literature since 1985.



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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: 14

HPO ID 徴候・症状 頻度
HP:0000174 口蓋の異常 Very frequent (99-80%)
HP:0000308 小顎後退 Very frequent (99-80%)
HP:0000343 長い人中 Very frequent (99-80%)
HP:0000649 視覚誘発電位の異常 Very frequent (99-80%)
HP:0001162 軸後性多指症 Very frequent (99-80%)
HP:0001249 知的障害 Very frequent (99-80%)
HP:0002205 反復性呼吸器感染症 Very frequent (99-80%)
HP:0003196 短い鼻 Very frequent (99-80%)
HP:0004322 低身長 Very frequent (99-80%)
HP:0004326 悪液質 (カヘキシー) Very frequent (99-80%)
HP:0011220 目立つ額 Very frequent (99-80%)
HP:0100704 皮質性視力障害 Very frequent (99-80%)
HP:0001276 筋緊張亢進 Frequent (79-30%)
HP:0001347 反射亢進 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