Kuskokwim syndrome

A very rare congenital contracture disorder, reported exclusively in Yup'ik Eskimos of the Kuskokwim River delta region of Alaska, characterized by multiple contractures of large joints (predominantly the knees and ankles) that present at birth or during childhood but are lifelong; deformities of the spine, pelvis and feet; and sometimes proximally or distally displaced patellae and muscle atrophy in the limbs with contractures. Additional radiological features include mild vertebral wedging, elongation of the vertebral pedicle, and clubbing of the distal clavicle. An autosomal recessive pattern of inheritance has been suggested.



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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: 10

HPO ID 徴候・症状 頻度
HP:0001288 歩行障害 Very frequent (99-80%)
HP:0001387 関節拘縮 Very frequent (99-80%)
HP:0006498 膝蓋骨無形成/低形成 Very frequent (99-80%)
HP:0001883 尖足 Frequent (79-30%)
HP:0000889 鎖骨の異常 Occasional (29-5%)
HP:0000995 メラニン細胞母斑 Occasional (29-5%)
HP:0001315 腱反射減少 Occasional (29-5%)
HP:0002650 側弯 Occasional (29-5%)
HP:0003312 椎体骨形態異常 Occasional (29-5%)
HP:0006501 橈骨無形成/低形成 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: 1

Gene Symbol 遺伝子名 Entrez Gene ID
FKBP10 FKBP prolyl isomerase 10 60681