Lethal Congenital Contractural Syndrome 3 (PIP5K1C)

Lethal congenital contractural syndrome 3 is an autosomal recessive disorder caused by pathogenic variants in the gene PIP5K1C. The onset of this condition occurs in utero and signs of the disorder can occasionally be observed on prenatal ultrasound. This disorder is characterized by severe congenital arthrogryposis/ joint contractures with severe muscle wasting and atrophy, particularly of the legs. Severe respiratory insufficiency typically causes death shortly after birth. No clear genotype-phenotype correlation has been reported.

For information about carrier frequency and residual risk, please see the residual risk table.

This gene is included on the following panel(s):