Desbuquois Dysplasia 1 (CANT1)

Pathogenic variants in the gene CANT1 cause the autosomal recessive disorder Desbuquois dysplasia 1. Onset is in utero and symptoms are apparent at birth. Affected individuals have severe prenatal and postnatal growth retardation, short limbs, hand bone abnormalities, joint laxity, and progressive scoliosis. On x-ray, the characteristic imaging finding of a ‘Swedish key’ proximal femur may be noted. This disorder is typically fatal in infancy due to respiratory failure. Those who survive infancy often have intellectual disability, developmental delay, and orthopedic complications that limit ambulation. Some patients may have a related disorder known as multiple epiphyseal dysplasia 7, the onset of which is typically in utero with symptoms apparent at birth. Individuals have the ‘Swedish key’ appearance of the proximal femur and progressive scoliosis. Affected individuals typically do not show characteristic hand bone abnormalities and neurological impairments common in Desbuquois dysplasia. 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):