Mulibrey Nanism (TRIM37)

Mulibrey nanism is an autosomal recessive disorder caused by pathogenic variants in the gene TRIM37. This disorder is found to be most prevalent in individuals of Finnish descent. Onset of this condition is in utero and symptoms are typically apparent at birth. This disorder is characterized by severe growth delays in utero, short stature, distinctive facial features, constrictive pericarditis, low muscle tone, edema (swelling) in the arms and legs, enlarged heart and liver, high pitched voice, delayed puberty, insulin resistance with type 2 diabetes, and an increased risk for Wilm’s tumor. 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):