Arthrogryposis multiplex congenita neurogenic type (AMCN) causes multiple joint contractures affecting two or more areas of the body prior to birth. A
contracture occurs when a joint becomes permanently fixed in a bent or
straightened position, which can impact the function and range of motion
of the joint and lead to muscle atrophy. The contractures may occur alone or along with brain malformations.
Learning can be normal to severely impaired depending on the presence of a
brain malformation. The following additional symptoms have been reported in individual cases:
Differences in facial appearance (e.g., small lower jaw, wide spaced eyes, drooping eyelids, down turned mouth)
Differences in head shape (e.g., craniosynostosis)
Rocker bottom feet (feet with a rounded bottom)
The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
|Signs and Symptoms||Approximate number of patients (when available)|
|Abnormality of calvarial morphology||90%|
|Abnormality of mesentery morphology||90%|
|Abnormality of the gastric mucosa||90%|
|Abnormality of the shoulder||90%|
|Camptodactyly of finger||90%|
|Limitation of joint mobility||90%|
|Skeletal muscle atrophy||90%|
|Abnormality of the hip bone||50%|
|Aplasia/Hypoplasia of the radius||50%|
|Sacrococcygeal pilonidal abnormality||50%|
|Congenital muscular torticollis||7.5%|
|Abnormality of cardiovascular system morphology||-|
|Autosomal recessive inheritance||-|
Treatment of arthrogryposis (joint contracture) involves occupational and physical therapy, well-fitted orthoses (splints and braces), and corrective surgery (if indicated). With treatment most kids can improve their range of motion, muscle strength, and function.
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