Terminology Service for NFDI4Health

Arthrogryposis multiplex congenita

Go to external page http://purl.obolibrary.org/obo/HP_0002804


Multiple congenital contractures in different body areas. [ http://www.ncbi.nlm.nih.gov/pubmed/23050160 ]

Term info

Label

Arthrogryposis multiplex congenita

Synonyms
  • Arthrogryposis
  • Arthrogryposis multiplex
  • Arthrogryposis, congenital
  • Multiple congenital contractures
database cross reference
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.

has alternative id

HP:0005663, HP:0005809, HP:0005188, HP:0002759, HP:0005859, HP:0001390, HP:0001389

has obo namespace

human_phenotype

id

HP:0002804

Term relations

Subclass of: