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