Verloove Vanhorick-Brubakk syndrome

Verloove Vanhorick-Brubakk syndrome is a multiple congenital anomalies/dysmorphic syndrome characterized by multiple skeletal malformations (short femora and humeri, bilateral absence of metatarsal and metacarpal bone in hands and feet, bilateral partial syndactyly of fingers and toes or oligopolysyndactyly, deformed lumbosacral spine), congenital heart disease (truncus arteriosus), lung and urogenital malformations (bilateral bilobar lungs, horseshoe kidney, cryptorchidism), and facial malformations (bilateral cleft lip and palate, micrognathia, small, low-set ears without external meatus). It is lethal in the neonatal period. There have been no further descriptions in the literature since 1981.



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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
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徴候・症状リスト(Orphanetデータベースから取得)

    合計: 18

HPO ID 徴候・症状 頻度
HP:0000028 停留精巣 Very frequent (99-80%)
HP:0000175 口蓋裂 Very frequent (99-80%)
HP:0000347 小顎 Very frequent (99-80%)
HP:0000369 耳介低位 Very frequent (99-80%)
HP:0000413 外耳道閉鎖 Very frequent (99-80%)
HP:0000828 副甲状腺異常 Very frequent (99-80%)
HP:0001163 中手骨の異常 Very frequent (99-80%)
HP:0002564 心および大血管奇形 Very frequent (99-80%)
HP:0002644 骨盤帯骨の形態異常 Very frequent (99-80%)
HP:0002823 大腿骨の異常 Very frequent (99-80%)
HP:0003312 椎体骨形態異常 Very frequent (99-80%)
HP:0006703 肺無形成/低形成 Very frequent (99-80%)
HP:0008368 足根骨癒合症 Very frequent (99-80%)
HP:0008551 小耳 Very frequent (99-80%)
HP:0009826 四肢成長不全 Very frequent (99-80%)
HP:0100335 非正中口唇裂 Very frequent (99-80%)
HP:0006101 合指症 Frequent (79-30%)
HP:0100542 腎位置異常 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