Roberts syndrome


What are the main symptoms of Roberts syndrome?
  • Slow growth: babies are often a lot smaller than expected while they are inside the mother, and they are also born extremely small compared to other babies
  • Differences in the limbs: short arms and legs; usually the arms are more severe than the legs
  • Differences in the hands: unusually-shaped fingers, fingers in the wrong place, curved fingers, missing fingers
  • Differences in facial features: hole in the lip or roof of the mouth (cleft lip/palate), small head (microcephaly), small chin (micrognathia), down-slanting eyes, wide-spaced eyes (hypertelorism), differences in the ears, small and beaked nose. Children who are more severely affected can have a sac-like part of their brain coming out the front of their skull.
  • Intellectual Disability: can range from mild to severe
  • Differences in the heart
  • Differences of the kidneys
  • Differences of the genitals in males and females
  • Very thin hair

Gordillo M., Vega H., Jabs E. Roberts Syndrome. 2006 Apr 18 [Updated 2013 Nov 14].

Holden K., Jabs E., Sponseller P. Roberts/pseudothalidomide syndrome and normal intelligence: approaches to diagnosis and management. Dev Med Child Neurol.

Maserati E., Pasquali .F, Zuffardi O., et al. Roberts syndrome: phenotypic variation, cytogenetic definition and heterozygote detection.

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