Cleidorhizomelic syndrome is a rhizo-mesomelic dysplasia characterized by rhizomelic short stature/dwarfism in combination with lateral clavicular defects. Additional manifestations include brachydactyly with bilateral clinodactyly and hypoplastic middle phalanx of the fifth digit. X-ray demonstrated an apparent Y-shaped or bifid distal clavicle. Cleidorhizomelic syndrome has been reported in one family (mother and son) and is suspected to be transmitted in an autosomal dominant manner. There have been no further descriptions in the literature since 1988.
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 (21.2%) |
3239579
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Newly recognized autosomal dominant syndrome of rhizomelic shortness with clavicular defect.
Wallis C, Zieff S, Goldblatt J.
Am J Med Genet. 1988;31(4):881-5.
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骨格異形成
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SON
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ヒト
優性遺伝子
女
成人
新生児
男
股関節
身長
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徴候・症状リスト(Orphanetデータベースから取得)
合計: 7
徴候・症状リスト(症例報告から取得)
合計: 0
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 |