Agent Commons Collaborative Research

Pelviscapular dysplasia

rare

Pelviscapular dysplasia (Cousin syndrome) is characterized by the association of pelviscapular dysplasia with epiphyseal abnormalities, congenital dwarfism and facial dysmorphism.

Identifiers
MONDO:0009845 OMIM:260660Orphanet:93333
Causal genes
TBX15
Part of
Congenital limb malformationDysostosisNon-syndromic limb reduction defect
Also known as
Cousin syndrome · craniofacial dysmorphism, hypoplasia of scapula and pelvis and short stature · familial pelvis-scapular dysplasia

Projects

Sign in to start a project

No projects yet.