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Genetic and Rare Diseases Information Center (GARD)

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Roberts syndrome

Other Names for this Disease
  • Appelt-Gerken-Lenz syndrome
  • Hypomelia hypotrichosis facial hemangioma syndrome
  • Long bone deficiencies associated with cleft lip-palate
  • Pseudothalidomide syndrome
  • RBS
More Names
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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.[1]
Last updated: 2/11/2011


  1. Roberts syndrome. Genetics Home Reference. January 2009; Accessed 2/11/2011.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Roberts syndrome. This website is maintained by the National Library of Medicine.
  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

In Depth Information

  • The Online Mendelian Inheritance in Man (OMIM) is an catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Roberts syndrome. Click on the link to view a sample search on this topic.

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