Congenital arthrogryposis with anterior horn cell disease

Definition:

Congenital arthrogryposis with anterior horn cell disease (CAAHD), formerly known as lethal arthrogryposis with anterior horn cell disease (LAAHD), is a condition with fetal akinesia deformation sequence (FADS), multiple contractures and facial anomalies. Motor neuron loss is also present in patients with CAAHD.

References:

[1]. Heidi O Nousiainen, et al. Mutations in mRNA export mediator GLE1 result in a fetal motoneuron disease. Nat Genet. 2008 Feb;40(2):155-7. [Content Brief]

[2]. K Vuopala, et al. Lethal arthrogryposis with anterior horn cell disease. Hum Pathol. 1995 Jan;26(1):12-9. [Content Brief]

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