H00461 | |
H number | H00461 |
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 |
Network | - |
Gene | TBX4 [HSA:9496] [KO:K10178] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | - |
Other DBs | ICD-11: LD24.JY ICD-10: Q74.1 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 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 |