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.

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Article information

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

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