Bone dysplasia, lethal Holmgren type

Bone dysplasia lethal Holmgren type (BDLH) is a lethal bone dysplasia characterized at birth by low birth weight, a rhizomelic dwarfism, bent femora and short chest producing asphyxia. It was described in three siblings from healthy, non-consanguineous parents of Finnish and in four siblings from non-consanguineous parents of French origin with no family history of dwarfism. The initial cases could have been diagnosed as Desbuquois syndrome, or a recessive Larsen syndrome. There has been no further description of BDLH in the literature since 1988.



患者の 徴候・症状 を入力


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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: 39

HPO ID 徴候・症状 頻度
HP:0000773 短い肋骨 Very frequent (99-80%)
HP:0000774 狭い胸郭 Very frequent (99-80%)
HP:0001824 体重喪失 Very frequent (99-80%)
HP:0002093 呼吸不全 Very frequent (99-80%)
HP:0002652 骨格異形成 Very frequent (99-80%)
HP:0002823 大腿骨の異常 Very frequent (99-80%)
HP:0002983 小肢症 Very frequent (99-80%)
HP:0008890 重度の短肢小人症 Very frequent (99-80%)
HP:0008905 四肢近位短縮 Very frequent (99-80%)
HP:0000348 高い額 Frequent (79-30%)
HP:0000364 聴覚異常 Frequent (79-30%)
HP:0000457 落ちくぼんだ鼻梁 Frequent (79-30%)
HP:0000463 上向きの鼻孔 Frequent (79-30%)
HP:0000470 短い頸部 Frequent (79-30%)
HP:0000940 骨幹形態異常 Frequent (79-30%)
HP:0001172 母指の異常 Frequent (79-30%)
HP:0001252 筋緊張低下 Frequent (79-30%)
HP:0001373 関節脱臼 Frequent (79-30%)
HP:0001591 ベル型胸 Frequent (79-30%)
HP:0002007 前頭突出, 額突出 Frequent (79-30%)
HP:0002564 心および大血管奇形 Frequent (79-30%)
HP:0005692 関節過伸展 Frequent (79-30%)
HP:0005930 骨端の異常 Frequent (79-30%)
HP:0009811 肘異常 Frequent (79-30%)
HP:0012368 平坦な顔 Frequent (79-30%)
HP:0100255 骨幹端異形成 Frequent (79-30%)
HP:0001155 手の異常 Occasional (29-5%)
HP:0001508 成長障害 (成長不全) Occasional (29-5%)
HP:0001631 心房中隔欠損 Occasional (29-5%)
HP:0001639 肥大型心筋症 Occasional (29-5%)
HP:0001643 動脈管開存症 Occasional (29-5%)
HP:0001883 尖足 Occasional (29-5%)
HP:0001903 貧血 Occasional (29-5%)
HP:0002014 下痢 Occasional (29-5%)
HP:0002017 吐気と 嘔吐 Occasional (29-5%)
HP:0002205 反復性呼吸器感染症 Occasional (29-5%)
HP:0002240 肝腫大 Occasional (29-5%)
HP:0005989 豊富な頸部皮膚 Occasional (29-5%)
HP:0100790 ヘルニア 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