Cryptomicrotia-brachydactyly-excess fingertip arch syndrome

Cryptomicrotia - brachydactyly - excess fingertip arch syndrome describes a combination of malformations that include bilateral cryptomicrotia, brachytelomesophalangy with short middle and distal phalanges of digits 2 through 5, hypoplastic toenails and excess fingertip arch patterns, and has been reported in one family (mother and son). Cryptomicrotia - brachydactyly - excess fingertip arch syndrome is thought to follow an autosomal dominant transmission. There have been no further descriptions in the literature since 1988.



患者の 徴候症状 を入力


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: 7

HPO ID 徴候・症状 頻度
HP:0005872 短い末節および中節骨 Very frequent (99-80%)
HP:0007477 異常な皮膚紋理 Very frequent (99-80%)
HP:0009882 短い指末節骨 Very frequent (99-80%)
HP:0000048 二分陰嚢 Frequent (79-30%)
HP:0000506 内眼角外方偏位 Frequent (79-30%)
HP:0001480 色素斑 Frequent (79-30%)
HP:0001800 趾爪低形成 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