Roberts-SC Phocomelia Syndrome

**Semantic type:** Disease or Syndrome

**Definition:** A rare genetic syndrome with an autosomal recessive pattern of inheritance. It is caused by a mutation in the ESCO2 gene. Clinical signs at birth include multiple limb and facial abnormalities. It is considered to be a mild variant of Roberts syndrome.

**Synonyms:** - Hypomelia Hypotrichosis Facial Hemangioma Syndrome - Phocomelia-Pseudothalidomide Syndrome - Pseudothalidomide Syndrome - SC Phocomelia Syndrome