Roberts syndrome is generally characterized by abnormalities of the limbs and face, including phocomelia in some severe cases, the absence of bones and muscles in the upper or lower limbs (in more extreme cases the limbs arise directly from the trunk).
Craniofacial malformations include cleft lip, cleft palate, microcephaly (head size smaller than usual), among others
The methods to be diagnosed are based on cytogenetic tests, those affected present premature separation of the centromeres and separation of the heterochromatic regions in most of the chromosomes in metaphase
