Ehlers-Danlos Syndrome, Type VI (PLOD1)

Ehlers-Danlos syndrome, type VI is an autosomal recessive disorder caused by pathogenic variants in the gene PLOD1. The onset of this condition occurs in infancy with severe hypotonia. Individuals develop progressive kyphoscoliosis, severe joint hypermobility, and global developmental delay in the first few years of life. Other characteristics include Marfanoid habitus, osteopenia, fragility of the skin with abnormal scarring, and cardiovascular abnormalities. Additional ocular characteristics include unusually small corneas, scleral fragility, and possible ocular rupture. Life expectancy may be reduced as a result of cardiovascular abnormalities. No clear genotype-phenotype correlation has been established.

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

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