RBS
MCID: RBR001
MIFTS: 62

Roberts Syndrome (RBS) malady

Eye diseases, Bone diseases, Fetal diseases, Skin diseases, Cardiovascular diseases categories

Summaries for Roberts Syndrome

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21Genetics Home Reference, 42NIH Rare Diseases, 63Wikipedia, 46OMIM, 19GeneReviews, 32MalaCards
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NIH Rare Diseases:42 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. last updated: 2/11/2011

MalaCards: Roberts Syndrome, also known as roberts-sc phocomelia syndrome, is related to baller-gerold syndrome and fanconi's anemia, and has symptoms including carpal bones fusion/synostosis, blue sclerae and glaucoma. An important gene associated with Roberts Syndrome is ESCO2 (establishment of sister chromatid cohesion N-acetyltransferase 2), and among its related pathways are Cell cycle and Chromatin Regulation / Acetylation. Affiliated tissues include bone, kidney and heart, and related mouse phenotypes are cellular and mortality/aging.

Genetics Home Reference:21 Roberts syndrome is a genetic disorder characterized by limb and facial abnormalities. Affected individuals also grow slowly before and after birth. Mild to severe intellectual impairment occurs in half of all people with Roberts syndrome.

Wikipedia:63 Roberts syndrome, or sometimes called pseudothalidomide syndrome, is an extremely rare genetic disorder... more...

Description from OMIM:46 268300,269000

GeneReviews summary for rbs

Aliases & Classifications for Roberts Syndrome

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8Disease Ontology, 9diseasecard, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 10DISEASES, 48Orphanet, 60UMLS, 34MeSH, 39NCIt, 56SNOMED-CT, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

48
roberts syndrome:
Inheritance: Autosomal recessive; Age of onset: Neonatal/infancy


Aliases & Descriptions:

roberts syndrome 8 9 19 42 20 21 46 10 48
roberts-sc phocomelia syndrome 19 22 21 48 60
pseudothalidomide syndrome 19 42 21 48
sc phocomelia syndrome 21 46 10
long bone deficiencies associated with cleft lip-palate 8 42
hypomelia hypotrichosis facial hemangioma syndrome 42 21
sc pseudothalidomide syndrome 21 48
appelt-gerken-lenz syndrome 42 21
rbs 42 21
congenital lipomatous overgrowth, vascular malformations, and epidermal nevi 60
tetraphocomelia-cleft palate syndrome 21
sc-phocomelia syndrome 19
pseudothalidomide 19
sc phocomelia 48
sc syndrome 21
roberts-sc 19


External Ids:

Disease Ontology8 DOID:5325
MeSH34 C535687
NCIt39 C4681
SNOMED-CT56 48718006
MESH via Orphanet35 C535687
ICD10 via Orphanet26 Q73.8
SNOMED-CT via Orphanet57 48718006
UMLS via Orphanet61 C0392475

Related Diseases for Roberts Syndrome

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Roberts Syndrome:



Diseases related to roberts syndrome

Clinical Features for Roberts Syndrome

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Sources:
46OMIM, 48Orphanet
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Clinical features from OMIM:

268300,269000

Clinical synopsis from OMIM:

268300

Symptoms:

48 (show all 48)
  • carpal bones fusion/synostosis
  • blue sclerae
  • glaucoma
  • anophthalmos/anophthalmia/microphthalmos/microphthalmia
  • craniostenosis/craniosynostosis/sutural synostosis
  • prematurity
  • stillbirth/neonatal death
  • early death/lethality
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • nystagmus
  • high vaulted/narrow palate
  • short neck
  • polyhydramnios
  • thrombocytopenia/thrombopenia
  • multicystic kidney/renal dysplasia
  • wide space between 1st-2nd toes
  • patella absent/abnormal (excluding luxation)
  • syndactyly of fingers/interdigital palm
  • simian crease/transverse/unique palmar crease
  • arthrogryposis
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • macropenis/megapenis/large penis
  • clitoris/labia majora/labia minora/female external genitalia hypoplasia
  • bowed diaphysis/diaphyses/long bones
  • hypotrichosis/atrichia/atrichiasis/scalp hairlessness
  • thumb hypoplasia/aplasia/absence
  • clinodactyly of fifth finger
  • upper limb transverse anomaly (excluding hand)
  • radius anomaly/absence/agenesis/hypoplasia/abnormal radial ray
  • phocomelia
  • thin/hypoplastic ala nasi
  • flat cheek bones/malar hypoplasia
  • hypertelorism
  • brachycephaly/flat occiput
  • autosomal recessive inheritance
  • short stature/dwarfism/nanism
  • congenital cardiac anomaly/malformation/cardiopathy
  • capillary hemangioma/nevus/naevus flammeus/port-wine stain
  • short hand/brachydactyly
  • radioulnar synostosis
  • small/hypoplastic/adherent/absent ear lobe
  • cleft lip and palate
  • cataract/lens opacification
  • micrognathia/retrognathia/micrognathism/retrognathism
  • proptosis/exophthalmos
  • flat supraorbital ridge
  • intrauterine growth retardation
  • microcephaly

Drugs & Therapeutics for Roberts Syndrome

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Roberts Syndrome

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20GeneTests, 22GTR
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Genetic tests related to Roberts Syndrome:

id Genetic test Affiliating Genes
1 Roberts Syndrome20 ESCO2
2 Roberts-Sc Phocomelia Syndrome22

Anatomical Context for Roberts Syndrome

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32MalaCards
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MalaCards organs/tissues related to Roberts Syndrome:

32
Bone, Kidney, Heart, Testes, Eye

Animal Models for Roberts Syndrome or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Roberts Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053848.3DDX11, RELN, RAD21, ESCO1, ESCO2, SMC1A
2MP:00107687.3SMC3, NIPBL, DDX11, RELN, INCENP, RAD21

Publications for Roberts Syndrome

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50PubMed
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Articles related to Roberts Syndrome:

(show top 50)    (show all 97)
idTitleAuthorsYear
1
Stimulation of mTORC1 with L-leucine rescues defects associated with Roberts syndrome. (24098154)
2013
2
Spontaneous intracranial hemorrhage and multiple intracranial aneurysms in a patient with Roberts/SC phocomelia syndrome. (22044369)
2011
3
A child with Roberts syndrome. (21777535)
2011
4
A zebrafish model of Roberts syndrome reveals that Esco2 depletion interferes with development by disrupting the cell cycle. (21637801)
2011
5
The Roberts syndrome/SC phocomelia spectrum--a case report of an adult with review of the literature. (20101700)
2010
6
Phenotypic variability in 49 cases of ESCO2 mutations, including novel missense and codon deletion in the acetyltransferase domain, correlates with ESCO2 expression and establishes the clinical criteria for Roberts syndrome. (19574259)
2010
7
Diagnostic Overlap between Fanconi Anemia and the Cohesinopathies: Roberts Syndrome and Warsaw Breakage Syndrome. (21490908)
2010
8
The importance of chromosome studies in Roberts syndrome/SC phocomelia and other cohesinopathies. (19878742)
2010
9
Roberts syndrome: facial dysmorphology in a mildly affected case. (19707122)
2009
10
The earliest description of an autopsy on a case of Roberts syndrome reported in 1672: some additions. (19533786)
2009
11
Prenatal diagnosis of Roberts syndrome and detection of an ESCO2 frameshift mutation in a Pakistani family. (18186147)
2008
12
SCE frequency measurement could be useful in the prenatal diagnosis of Roberts syndrome. (17708708)
2007
13
Femorotibial ankylosis in a child with Roberts syndrome: an "aggressive" approach to habilitation. (18209617)
2007
14
Roberts syndrome: study of 4 new Rgyptian cases with comparison of clinical and cytogenetic findings. (16719272)
2006
15
Inactivating mutations in ESCO2 cause SC phocomelia and Roberts syndrome: no phenotype-genotype correlation. (16380922)
2005
16
Mapping of a single locus capable of complementing the defective heterochromatin phenotype of Roberts syndrome cells. (15887093)
2005
17
Report of two Turkish infants with Norman-Roberts syndrome. (15083694)
2004
18
Roberts syndrome from the plastic surgeon's viewpoint. (11604661)
2001
19
A case of Roberts syndrome described in 1737. (11494971)
2001
20
Craniosynostosis in Roberts syndrome. (9134301)
1997
21
Prenatal diagnosis of Roberts syndrome: two new cases. (8650122)
1996
22
A mild form of Roberts/SC phocomelia syndrome with asymmetrical reduction of the upper limbs. (8832138)
1996
23
Picture of the month. Roberts-SC phocomelia syndrome. (8646318)
1996
24
Tri-amelia and phocomelia with multiple malformations resembling Roberts syndrome in a fetus: is it a variant or a new syndrome? (9147883)
1996
25
Possible genetic heterogeneity in the Roberts-SC phocomelia syndrome. (7558058)
1995
26
Clinical heterogeneity of skeletal dysplasia in Roberts syndrome: a review. (8039795)
1994
27
Roberts-SC phocomelia syndrome: a case with additional anomalies. (8004795)
1994
28
Prenatal diagnosis of Roberts syndrome. (7524059)
1994
29
Sensitivity of Roberts syndrome cells to gamma radiation, mitomycin C, and protein synthesis inhibitors. (8211379)
1993
30
Roberts syndrome. (8264097)
1993
31
Roberts syndrome: a review of 100 cases and a new rating system for severity. (8291532)
1993
32
Prenatal diagnosis of Roberts syndrome. (1494554)
1992
33
Tetra-phocomelia with multiple malformations: X-linked amelia, or Roberts syndrome, or DK-phocomelia syndrome? (1605264)
1992
34
Prenatal sonographic features and management of a fetus with Roberts-SC phocomelia syndrome (pseudothalidomide syndrome) and pulmonary hypoplasia. (1741870)
1991
35
Studies of mitotic and centromeric abnormalities in Roberts syndrome: implications for a defect in the mitotic mechanism. (2055135)
1991
36
Premature centromere separation and the prenatal diagnosis of Roberts syndrome. (2668921)
1989
37
Roberts-SC phocomelia syndrome with exencephaly. (2817778)
1989
38
Centromere separation and aneuploidy in human mitotic mutants: Roberts syndrome. (2696961)
1989
39
Prenatal detection of Roberts-SC phocomelia syndrome: report of 2 sibs with characteristic manifestations. (2658590)
1989
40
Roberts syndrome. (3216639)
1988
41
Incidental detection of premature centromere separation in amniocytes associated with a mild form of Roberts syndrome. (3205861)
1988
42
Roberts syndrome: antenatal ultrasound--a case report. (3042945)
1988
43
Roberts syndrome and SC phocomelia. A single genetic entity. (3568444)
1987
44
Chromatid repulsion associated with Roberts/SC phocomelia syndrome is reduced in malignant cells and not expressed in interspecies somatic-cell hybrids. (3788975)
1986
45
Syndromes with lissencephaly. I: Miller-Dieker and Norman-Roberts syndromes and isolated lissencephaly. (6476009)
1984
46
Nuchal cystic hygroma in a fetus with presumed Roberts syndrome. (6859118)
1983
47
Roberts syndrome: clinical and cytogenetic aspects. (7077622)
1982
48
Roberts' syndrome. I. Cytological evidence for a disturbance in chromatid pairing. (527250)
1979
49
Hydranencephaly in association with Roberts syndrome. (667753)
1978
50
The Roberts syndrome. (4220010)
1974

Genetic Variations for Roberts Syndrome

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Roberts Syndrome:

62
id Symbol AA change Variation ID SNP ID
1ESCO2p.Trp539GlyVAR_022649

Expression for genes affiliated with Roberts Syndrome

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Roberts Syndrome

Search GEO for disease gene expression data for Roberts Syndrome.

Pathways for genes affiliated with Roberts Syndrome

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29KEGG, 37NCBI BioSystems Database, 4Cell Signaling Technology, 53Reactome, 12EMD Millipore
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Compounds for genes affiliated with Roberts Syndrome

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GO Terms for genes affiliated with Roberts Syndrome

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16Gene Ontology
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Cellular components related to Roberts Syndrome according to GeneCards/GeneDecks:

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1nuclear meiotic cohesin complexGO:03499110.0SMC3, RAD21
2meiotic cohesin complexGO:03089310.0SMC3, SMC1A
3cohesin complexGO:0082789.6CDCA5, RAD21, SMC3
4chromatinGO:0007859.5ESCO1, ESCO2, SMC3
5lateral elementGO:0008009.5SMC3, INCENP
6chromosomeGO:0056949.3SMC3, SMC1A, RAD21, CDCA5
7spindle poleGO:0009229.1ZW10, DDX11, SGOL1, SMC3
8kinetochoreGO:0007768.6ZWINT, ZW10, INCENP, SGOL1, SMC1A
9condensed chromosome kinetochoreGO:0007778.6ZWINT, ZW10, INCENP, SGOL1, SMC1A
10chromosome, centromeric regionGO:0007758.4SMC3, SMC1A, SGOL1, RAD21, INCENP, CDCA5
11nucleoplasmGO:0056547.8NIPBL, DDX11, CDCA5, RAD21, ZNF143, ESCO1
12cytosolGO:0058297.3ZW10, CDCA5, INCENP, RAD21, SGOL1, SMC1A

Biological processes related to Roberts Syndrome according to GeneCards/GeneDecks:

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1post-translational protein acetylationGO:03442110.1ESCO2, ESCO1
2negative regulation of DNA endoreduplicationGO:03287610.0SMC3, SMC1A
3mitotic spindle organizationGO:00705210.0SMC3, SMC1A
4sister chromatid cohesionGO:00706210.0DDX11, SMC1A, SMC3
5regulation of DNA replicationGO:0062759.9SMC3, ESCO2, ESCO1
6stem cell maintenanceGO:0198279.8NIPBL, SMC1A, SMC3
7mitotic sister chromatid cohesionGO:0070649.7NIPBL, CDCA5, SMC1A
8mitotic cell cycle checkpointGO:0070939.6ZWINT, ZW10, SMC1A
9meiosisGO:0071269.6SMC3, SMC1A, ZW10
10mitotic sister chromatid segregationGO:0000709.5SMC1A, DDX11, ZW10, ZWINT
11mitotic metaphase plate congressionGO:0070809.2CDCA5, ZW10
12chromosome segregationGO:0070599.0INCENP, RAD21, SGOL1
13mitosisGO:0070678.6SMC3, SGOL1, RAD21, INCENP, CDCA5
14cell divisionGO:0513018.1ZWINT, ZW10, CDCA5, RAD21, SGOL1, SMC1A
15mitotic cell cycleGO:0002786.8SMC3, ZWINT, ZW10, NIPBL, CDCA5, INCENP

Molecular functions related to Roberts Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1transferase activity, transferring acyl groupsGO:0167469.9ESCO2, ESCO1
2mediator complex bindingGO:0360339.7SMC3, SMC1A, NIPBL
3chromatin bindingGO:0036828.9NIPBL, CDCA5, SMC1A, SMC3
4protein bindingGO:0055155.4ZWINT, ZW10, NIPBL, DDX11, CDCA5, INCENP

Products for genes affiliated with Roberts Syndrome

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Sources for Roberts Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet