Roberts syndrome

Symptoms

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]. http://www.ncbi.nlm.nih.gov/books/NBK1153/

Holden K., Jabs E., Sponseller P. Roberts/pseudothalidomide syndrome and normal intelligence: approaches to diagnosis and management. Dev Med Child Neurol. http://onlinelibrary.wiley.com/doi/10.1111/j.1469-8749.1992.tb11475.x/abstract

Maserati E., Pasquali .F, Zuffardi O., et al. Roberts syndrome: phenotypic variation, cytogenetic definition and heterozygote detection. http://www.ncbi.nlm.nih.gov/pubmed/1809233

We use cookies to ensure that we give you the best experience on our website. By continuing to browse this site, you are agreeing to our use of cookies.

Continue Find out more about our use of cookies and similar technology

This content comes from a hidden element on this page.

The inline option preserves bound JavaScript events and changes, and it puts the content back where it came from when it is closed.

Remember Me