Roberts syndrome

Common Name(s)

Roberts syndrome, Roberts-SC phocomelia syndrome

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.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Roberts syndrome" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Roberts syndrome" returned 12 free, full-text research articles on human participants. First 3 results:

Stimulation of mTORC1 with L-leucine rescues defects associated with Roberts syndrome.
 

Author(s): Baoshan Xu, Kenneth K Lee, Lily Zhang, Jennifer L Gerton

Journal: PLoS Genet.. 2013 ;9(10):e1003857.

 

Roberts syndrome (RBS) is a human disease characterized by defects in limb and craniofacial development and growth and mental retardation. RBS is caused by mutations in ESCO2, a gene which encodes an acetyltransferase for the cohesin complex. While the essential role of the cohesin ...

Last Updated: 7 Oct 2013

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A zebrafish model of Roberts syndrome reveals that Esco2 depletion interferes with development by disrupting the cell cycle.
 

Author(s): Maren Mönnich, Zoë Kuriger, Cristin G Print, Julia A Horsfield

Journal: PLoS ONE. 2011 ;6(5):e20051.

 

The human developmental diseases Cornelia de Lange Syndrome (CdLS) and Roberts Syndrome (RBS) are both caused by mutations in proteins responsible for sister chromatid cohesion. Cohesion is mediated by a multi-subunit complex called cohesin, which is loaded onto chromosomes by NIPBL. ...

Last Updated: 3 Jun 2011

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The cellular phenotype of Roberts syndrome fibroblasts as revealed by ectopic expression of ESCO2.
 

Author(s): Petra van der Lelij, Barbara C Godthelp, Wouter van Zon, Djoke van Gosliga, Anneke B Oostra, Jûrgen Steltenpool, Jan de Groot, Rik J Scheper, Rob M Wolthuis, Quinten Waisfisz, Firouz Darroudi, Hans Joenje, Johan P de Winter

Journal:

 

Cohesion between sister chromatids is essential for faithful chromosome segregation. In budding yeast, the acetyltransferase Eco1/Ctf7 establishes cohesion during DNA replication in S phase and in response to DNA double strand breaks in G2/M phase. In humans two Eco1 orthologs exist: ...

Last Updated: 9 Sep 2009

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Roberts syndrome" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

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