Robert’s Syndrome is a very rare genetic disorder resulting in limb and facial abnormalities with all four limbs usually affected. They have shortened upper and lower extremity bones (hypomelia). In severe cases, the limbs may be so short that the hands and feet are in extreme proximity to the body. Affected individuals may also present with the following abnormalities:
- Syndactyly (more than 5 fingers or toes)
- Oligodactyly (less than 5 fingers or toes)
- Thumb aplasia (absent thumb)
- Thumb hypoplasia (“floating thumb”)
- Clinodactyly (curved fingers or toes)
- Joint contractures, especially in elbows and knees
Individuals may also present with facial abnormalities, including cleft palate, micrognathia (small chin), wide-set eyes (hypertelorism), and ear malformations.
Robert’s Syndrome is named after John B. Roberts, who first described the disease in 1919. Robert’s Syndrome is incredibly rare, with only 150 reported cases.
The syndrome is caused by mutations in the ESCO2 gene which provides instructions for a protein that is crucial for chromosome separation during cell division. The symptoms of Robert’s Syndrome are a manifestation of loss of cells due to abnormal cell division. The disease is inherited in an autosomal recessive pattern, meaning both copies of the allele must be inherited to express the syndrome.