Arthrogryposis multiplex congenita


Normal Case/Contol

GWAS of 0002804

Sibling Case/Control

No sibling GWAS available 0002804


Case Control
763 459431

Phenotype Definition

Multiple congenital contractures in different body areas. [HPO:probinson, PMID:23050160]

Phenotype Comment

Arthrogryposis multiplex congenita (AMC) consists of several conditions of different etiology and mixed clinical features, including multiple congenital contractures in multiple body areas. Here, we use the term to refer solely to the multiple congenital contractures. It is related to fetal akinesia owing to fetal neurogenic, muscle, or connective tissue disorders or occasionally to maternal conditions. AMC can be associated with polyhydramnios, pulmonary hypoplasia, micrognathia, ocular hypertelorism, and short umbilical cord. AMC is a feature of a heterogeneous group of disorders, some of which have the phrase 'arthrogryposis multiplex congenita' as a part of their name (for instance, Arthrogryposis multiplex congenita, distal type 1 or AMCD1). This term refers to the finding of multiple joint contractures found throughout the body at birth rather than to the disease entities of which this is a clinical feature.

Top SNP Information

Associated Diseases

ID Name Top Correlation
ICD: M200 Deformity of finger(s) 3/20