KEGG   DISEASE: Ischiocoxopodopatellar syndrome
Entry
H00461                      Disease                                
Name
Ischiocoxopodopatellar syndrome;
Coxopodopatellar syndrome;
Small patella syndrome;
Scott-Taor syndrome
Description
Ischiocoxopodopatellar syndrome, also known as small patella syndrome, is a skeletal dysplasia with anomalies of the pelvis. Ossification of the ischia and inferior pubic rami is also disrupted in patients.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD24  Syndromes with skeletal anomalies as a major feature
    H00461  Ischiocoxopodopatellar syndrome
Gene
TBX4 [HSA:9496] [KO:K10178]
Other DBs
ICD-11: LD24.JY
MeSH: C535540
OMIM: 147891
Reference
PMID:15106123
  Authors
Bongers EM, Duijf PH, van Beersum SE, Schoots J, Van Kampen A, Burckhardt A, Hamel BC, Losan F, Hoefsloot LH, Yntema HG, Knoers NV, van Bokhoven H
  Title
Mutations in the human TBX4 gene cause small patella syndrome.
  Journal
Am J Hum Genet 74:1239-48 (2004)
DOI:10.1086/421331
Reference
PMID:9133358
  Authors
Azouz EM, Kozlowski K
  Title
Small patella syndrome: a bone dysplasia to recognize and differentiate from the nail-patella syndrome.
  Journal
Pediatr Radiol 27:432-5 (1997)
DOI:10.1007/s002470050163
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