Research published in 2005 identified the gene responsible for Roberts syndrome, called ESCO2, on chromosome 8. Roberts syndrome is inherited in an autosomal recessive manner, meaning that a child must inherit two copies of the defective gene, one from each parent, in order to develop the syndrome.
A child born with Roberts syndrome may have various types of bone malformations. These may include:
- Incomplete development of arm and leg bones; this may be as severe as very short arms and legs or none at all, leaving flipper-like extremities (phocomelia)
- Unusually small, broad head
- Cleft lip on both sides, and/or incomplete development of the roof of the mouth (cleft palate)
- Low-set, malformed ears.
Diagnosis and Treatment
Because of the physical malformations associated with Roberts syndrome, an infant can usually be diagnosed at birth or shortly after. Some malformations, such as cleft lip and cleft palate, can be repaired surgically, usually during ages 6 months to 2 years. Braces, walkers, and other mobility aids and adaptive equipment can help the child grow and develop to reach his/her maximum potential.
Information for this article was taken from:
- Johns Hopkins Medicine. Fifteen-year hunt uncovers gene behind pseudothalidomide syndrome. Press release, dated 4/17/05.
- National Organization for Rare Disorders. Roberts syndrome.
- Vega, H., et al. (April 10, 2005). Roberts syndrome is caused by mutations in ESCO2, a human homolog of yeast ECO1 that is essential for the establishment of sister chromatid cohesion. Nature Genetics, pp. S1061-4036.