[Omodysplasia Type II – first publication of de novo Mutation in FZD2 Gene]

Stanislaw Jurk¹, Kristin Schröck², Saskia Biskup³, Holger Stepan⁴, Carsten Springer¹

Omodysplasia type II (autosomal dominant) is a very rare skeletal dysplasia with facial dysmorphism and urogenital abnormalities. Causal are alterations in the FZD2 gene. We describe a prenatally detected case with shortened upper extremities, cleft lip and palate and suspected genital hypoplasia. The de novo mutation in the FZD2 gene in the affected fetus, which has not been described yet, was found in the literature and is most likely the cause of the symptoms. To our knowledge, it is the first publication of the de novo mutation in the FZD2 gene.