Description

Darin et al reported criteria for the diagnosis of multiple congenital contractures (arthrogryposis multiplex congenita). This condition may be the result of a heterogenous group of conditions. The authors are from Goteborg University, the Queen Silvia Children's Hospital, Sablgrenska University Hospital and Uppsala University in Sweden.


 

Criteria:

(1) congenital limitation of joint movement

(2) affecting 2 or more joints

(3) in at least 2 different body areas

 

Exclusions:

(1) bilateral talipes only

(2) bilateral hip dislocation only

(3) spina bifida cystica (myelomeningocele)

 

The limitation in joint movement may be permanent or reversible, depending on the cause.

 

Associated problems depend on the underlying cause and may include:

(1) swallowing and/or feeding difficulty

(2) impaired walking

(3) mental retardation

(4) respiratory difficulty

(5) strabismus or ophthalmoplegia

 

Hereditary causes include:

(1) distal arthrogryposes

(2) congenital myotonic dystrophy and congenital muscular dystrophy

(3) congenital hypomyelination neuropathy

(4) hereditary connective tissue disorders (Ehlers-Danlos, other)

 

Acquired causes include:

(1) oligohydramnios

(2) intrauterine ischemic event with cerebral involvement

(3) Moebius sequence

(4) other causes of restricted intra-uterine fetal movement

(5) prenatal encephalopathy

(6) spinal cord disorder affecting the anterior horn cells

 


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