Roberts syndrome

Disease Overview

Roberts syndrome is a genetic disorder characterized by limb and facial abnormalities. Affected individuals are born with abnormalities of all four limbs and typically have shortened arm and leg bones (hypomelia). They may also have phocomelia (in severe cases); abnormal or missing fingers and toes; joint deformities (contractures); and numerous facial abnormalities including cleft lip with or without cleft palate; micrognathia; ear abnormalities; hypertelorism; down-slanting palpebral fissures; small nostrils; and a beaked nose. Microcephaly, intellectual disability, and heart, kidney or genital abnormalities may also be present. Infants with a severe form of Roberts syndrome are often stillborn or die shortly after birth, while mildly affected individuals may live into adulthood. It is caused by mutations in the ESCO2 gene and is inherited in an autosomal recessive pattern.[3016]

Synonyms

• SC phocomelia syndrome (mild variant of Roberts syndrome)
• Roberts-SC phocomelia syndrome
• Roberts tetraphocomelia syndrome
• Pseudothalidomide syndrome
• Appelt-Gerken-Lenz syndrome
• Hypomelia hypotrichosis facial hemangioma syndrome
• Tetraphocomelia-cleft palate syndrome
• Roberts syndrome/SC phocomelia
• Long bone deficiencies associated with cleft lip-palate
• RBS