H00873 | |
H number | H00873 |
Name | Cousin syndrome; Pelviscapular dysplasia |
Description | Cousin syndrome arises from errors of morphogenesis. It is characterized by scapular and pelvic hypoplasia along with epiphyseal abnormalities, congenital dwarfism, and facial dysmorphy including cranial, cervical, and auricular malformations. Cousin syndrome is linked to TBX15 insufficiency. |
Category | Congenital malformation |
Network | - |
Gene | TBX15 [HSA:6913] [KO:K10182] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | - |
Other DBs | ICD-11: LB9Y ICD-10: Q87.5 MeSH: C535550 OMIM: 260660 |
Reference | PMID:19068278 AUTHORS Lausch E, Hermanns P, Farin HF, Alanay Y, Unger S, Nikkel S, Steinwender C, Scherer G, Spranger J, Zabel B, Kispert A, Superti-Furga A TITLE TBX15 mutations cause craniofacial dysmorphism, hypoplasia of scapula and pelvis, and short stature in Cousin syndrome. JOURNAL Am J Hum Genet 83:649-55 (2008) DOI:10.1016/j.ajhg.2008.10.011 |