KEGG   DISEASE: 短肢・手型脊椎骨端骨幹端異形成
エントリ  
H00777                                                             
名称    
短肢・手型脊椎骨端骨幹端異形成;
短肢・石灰化異常型脊椎骨端骨幹端異形成
  上位グループ
脊椎骨端骨幹端異形成 [DS:H02187]
概要    
Spondylometaepiphyseal dysplasia, short limb-hand type, or spondylometaepiphyseal dysplasia, short limb-abnormal calcification type is a rare skeletal dysplasia. The key clinical features of this condition include short stature with typical short hands and broad, puffy fingers, a narrow chest, and a characteristic craniofacial appearance. Their long bones are short due to premature epiphyses and irregular metaphyses.
カテゴリ  
先天奇形
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 20 発達異常
  多発性の発達異常または症候群
   LD24  主な特徴として骨格の異常を伴う症候群
    H00777  短肢・手型脊椎骨端骨幹端異形成
病因遺伝子 
DDR2 [HSA:4921] [KO:K05125]
リンク   
ICD-11: LD24.3
MeSH: C564794
OMIM: 271665
文献    
  著者
Bargal R, Cormier-Daire V, Ben-Neriah Z, Le Merrer M, Sosna J, Melki J, Zangen DH, Smithson SF, Borochowitz Z, Belostotsky R, Raas-Rothschild A
  タイトル
Mutations in DDR2 gene cause SMED with short limbs and abnormal calcifications.
  雑誌
Am J Hum Genet 84:80-4 (2009)
DOI:10.1016/j.ajhg.2008.12.004
文献    
  著者
Smithson SF, Grier D, Hall CM
  タイトル
Spondylo-meta-epiphyseal dysplasia, short limb-abnormal calcification type.
  雑誌
Clin Dysmorphol 18:31-5 (2009)
DOI:10.1097/MCD.0b013e3283189762
文献    
  著者
Tuysuz B, Gazioglu N, Ungur S, Aji DY, Turkmen S
  タイトル
The time of onset of abnormal calcification in spondylometaepiphyseal dysplasia, short limb-abnormal calcification type.
  雑誌
Pediatr Radiol 39:84-9 (2009)
DOI:10.1007/s00247-008-1036-1
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