Different genetic variations that disturb the function of ELMO2 gene, called ELMO2 mutations, have been described in man. Exact function of ELMO2 gene is not known. When this gene fails to function properly, it is found that blood vessels of the bones in the head and face are much softer and thinner. This causes them to swell and fill with blood, deform the bone around them and become fragile. In most of the cases a special blood test called ELMO2 gene sequencing is sufficient to determine the underlying genetic cause of VMOS. However for some families other tests may also be required to determine more complicated genetic changes.
An extensive description of the broad clinical spectrum of VMOS can be found in the section Professionals – Molecular characteristics.