Lethal arthrogryposis with anterior horn cell disease (LAAHD) is an autosomal recessive genetic disorder characterized by reduced mobility of the foetus and early death.

LAAHD resembles LCCS1 disease but the phenotype is milder, with survival beyond 32nd gestational week.

The movements of the foetus during pregnancy are scanty and stiff, often only in upper limbs.

The size and shape of spinal cord at different levels are normal but anterior horn motoneurons are diminished in number and degenerated.

[1] LAAHD disease results from compound heterozygosity of GLE1F in Major and a missense point mutation in exon 13 (6 cases in 3 families) or a missense mutation in exon 16 ( seven cases in 3 families).