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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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Tests & Diagnosis

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How is Roberts syndrome diagnosed?

The diagnosis of Roberts syndrome is suspected in individuals with the following:
  • Prenatal growth delay ranging from mild to severe. Average birth length and weight is typically below the third percentile in most affected infants.
  • Limb malformations including bilateral, symmetric tetraphocomelia (phocomelia of all 4 limbs) or hypomelia (underdevelopment of the limbs) caused by mesomelic shortening (shortening of the middle part of the limb). Upper limbs are typically more severely affected than lower limbs. Other limb malformations include oligodactyly with thumb aplasia (lack of formation) or hypoplasia (underdevelopment), syndactyly, clinodactyly, and elbow and knee flexion contractures (inability to fully straighten the arms and legs).
  • Craniofacial abnormalities including bilateral cleft lip and/or palate, micrognathia (small jaw), hypertelorism (widely-spaced eyes), exophthalmos (bulging eyes), downslanting palpebral fissures, malar hypoplasia (underdeveloped cheek bones), hypoplastic nasal alae, and ear malformations.
The diagnosis of Roberts syndrome relies on a cytogenetic blood test of individuals with the above features. Cytogenetic testing would show the characteristic chromosomal abnormalities that are present in individuals with the condition.[1]
Last updated: 5/27/2011

Is genetic testing available for Roberts syndrome?

Genetic testing is currently available for Roberts syndrome. GeneTests lists the names of laboratories that are performing genetic testing for Roberts syndrome. To view the contact information for the clinical laboratories conducting testing click here. To access the contact information for the research laboratories performing genetic testing, click here.

Please note: Most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, if you are interested in learning more, you will need to work with a health care provider or a genetics professional.
Last updated: 2/11/2011

  1. Miriam Gordillo, Hugo Vega, Ethylin Wang Jabs. Roberts Syndrome. GeneReviews. April 14, 2009; Accessed 2/11/2011.


  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.