Familial osteodysplasia, Anderson type

Familial osteodysplasia, Anderson type is a rare, genetic dysostosis disorder characterized by craniofacial bone abnormalities (i.e. midface hypoplasia, broad, flat nasal bridge, narrow, thin prognathic mandible with pointed chin, malocclusion, partial dental agenesis) associated with additional osseous anomalies, including scoliosis, calvarial thinning, pointed spinous processes, clinodactyly and abnormal phalanges. Elevated erythrocyte sedimentation rate, hyperuricemia and hypertension have also been reported. There have been no further descriptions in the literature since 1982.



患者の 徴候症状 を入力


症例報告を絞り込む



合計: 1 (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)
1
(27.8%)
16476046
Dental findings and rehabilitation in familial osteodysplasia (Anderson type): a case report.
Deger S, Tabar G, Sermet B, Tanyeri H, Kurklu E.
Oral Dis. 2006;12(2):208-12.
埋伏歯
F11R
オーバーデンチャー ヒト 下顎骨 不正咬合 口腔リハビリテーション 成人 支台歯 歯冠 歯牙異常 歯科クラウン 発達性骨疾患 義歯設計
        

徴候・症状リスト(Orphanetデータベースから取得)

    合計: 31

HPO ID 徴候・症状 頻度
HP:0000272 平坦な頬 Very frequent (99-80%)
HP:0000303 下顎突出 Very frequent (99-80%)
HP:0000307 尖った下顎 Very frequent (99-80%)
HP:0000309 顔面中部の異常 Very frequent (99-80%)
HP:0000363 耳朶の異常 Very frequent (99-80%)
HP:0000414 球状の鼻 Very frequent (99-80%)
HP:0000448 目立つ鼻 Very frequent (99-80%)
HP:0000457 落ちくぼんだ鼻梁 Very frequent (99-80%)
HP:0000574 分厚い眉毛 Very frequent (99-80%)
HP:0000692 歯不正配列 Very frequent (99-80%)
HP:0000822 高血圧 Very frequent (99-80%)
HP:0002149 高尿酸血症 Very frequent (99-80%)
HP:0002650 側弯 Very frequent (99-80%)
HP:0002659 易骨折性の増加 Very frequent (99-80%)
HP:0002757 反復性骨折 Very frequent (99-80%)
HP:0002808 後弯 Very frequent (99-80%)
HP:0003103 骨皮質形態異常 Very frequent (99-80%)
HP:0003189 長い鼻 Very frequent (99-80%)
HP:0005613 大腿骨無形成/低形成 Very frequent (99-80%)
HP:0006352 永久歯萌出不全 Very frequent (99-80%)
HP:0006660 鎖骨無形成 Very frequent (99-80%)
HP:0009748 大きな耳朶 Very frequent (99-80%)
HP:0010443 二分した大腿骨 Very frequent (99-80%)
HP:0010668 顴骨の異常 Very frequent (99-80%)
HP:0000670 齲歯 Frequent (79-30%)
HP:0000772 肋骨の異常 Frequent (79-30%)
HP:0000921 肋骨欠損 Frequent (79-30%)
HP:0003312 椎体骨形態異常 Frequent (79-30%)
HP:0004209 第5指弯指 Frequent (79-30%)
HP:0001250 発作 Occasional (29-5%)
HP:0003042 肘脱臼 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