DISEASE: Congenital arthrogryposis with anterior horn cell disease
Entry
H01030 Disease
Name
Congenital arthrogryposis with anterior horn cell disease
Description
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.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Multiple developmental anomalies or syndromes
LD2F Syndromes with multiple structural anomalies, without predominant body system involvement
H01030 Congenital arthrogryposis with anterior horn cell disease