loading...| Preferred Name |
Arthrogryposis multiplex congenita |
| Synonyms |
Arthrogryposis multiplex Arthrogryposis, congenital Multiple congenital contractures Arthrogryposis |
| Definitions |
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. Multiple congenital contractures in different body areas. |
| ID |
http://purl.obolibrary.org/obo/HP_0002804 |
| 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. |
| database_cross_reference |
SNOMEDCT_US:111246005 UMLS:C0003886 SNOMEDCT_US:77016009 MSH:D001176 |
| definition |
Multiple congenital contractures in different body areas. |
| has_alternative_id |
HP:0005809 HP:0001389 HP:0005859 HP:0002759 HP:0001390 HP:0005188 HP:0005663 |
| has_exact_synonym |
Arthrogryposis multiplex Arthrogryposis, congenital Multiple congenital contractures Arthrogryposis |
| has_obo_namespace |
human_phenotype |
| id |
HP:0002804 |
| label |
Arthrogryposis multiplex congenita |
| notation |
HP:0002804 |
| prefLabel |
Arthrogryposis multiplex congenita |
| treeView | |
| subClassOf |