Roberts syndrome

Roberts syndrome, also known as Roberts-SC phocomelia syndrome, pseudothalidomide syndrome, or Appelt-Gerken-Lenz syndrome, is a rare congenital malformation syndrome.

It has an autosomal recessive inheritance, and is caused by mutations to the ESCO2 gene 3.

Share article

Article information

rID: 3966
Section: Syndromes
Synonyms or Alternate Spellings:
  • Appelt-Gerken-Lenz syndrome
  • Roberts syndrome (RBS)
  • Roberts-SC phocomelia syndrome
  • Pseudothalidomide syndrome

Support Radiopaedia and see fewer ads

Updating… Please wait.

 Unable to process the form. Check for errors and try again.

 Thank you for updating your details.