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Roberts Syndrome

Inherited disorder causes abnormal bone development

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Updated April 24, 2005

Roberts syndrome is an inherited disorder that causes malformations of bones of the skull, face, and arms and legs. Roberts syndrome has been called pseudothalidomide syndrome because the physical malformations in children with the syndrome resemble those of children whose mothers took thalidomide during pregnancy, such as shortened limbs (phocomelia). Roberts syndrome affects both males and females and, although very rare, has been found in individuals all over the world.

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.

Symptoms
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.
There may be additional bone malformations, and some children with Roberts syndrome may be mentally retarded.

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.

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