RBS
MCID: RBR001
MIFTS: 55

Roberts Syndrome (RBS) malady

Eye, Bone, Fetal, Skin, Cardiovascular categories

Summaries for Roberts Syndrome

Sources:
21Genetics Home Reference, 43NIH Rare Diseases, 64Wikipedia, 47OMIM, 19GeneReviews, 33MalaCards
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NIH Rare Diseases:43 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 fanconi's anemia and baller-gerold syndrome, and has symptoms including hypertelorism, flat cheek bones/malar hypoplasia and short neck. 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 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:64 Roberts syndrome, or sometimes called pseudothalidomide syndrome, is an extremely rare genetic disorder... more...

Description from OMIM:47 268300,269000

GeneReviews summary for rbs

Aliases & Classifications for Roberts Syndrome

Sources:
21Genetics Home Reference, 47OMIM, 10DISEASES, 43NIH Rare Diseases, 49Orphanet, 8Disease Ontology, 9diseasecard, 19GeneReviews, 20GeneTests, 22GTR, 61UMLS, 35MeSH, 40NCIt, 57SNOMED-CT, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal
Anatomical: Eye, Bone, Skin, Cardiovascular


Characteristics (Orphanet epidemiological data):

49
roberts syndrome:
Inheritance: Autosomal recessive; Age of onset: Neonatal/infancy


Aliases & Descriptions:

roberts syndrome 8 9 19 43 20 21 47 10 49
roberts-sc phocomelia syndrome 19 22 21 49 61
pseudothalidomide syndrome 19 43 21 49
sc phocomelia syndrome 21 47 10
long bone deficiencies associated with cleft lip-palate 8 43
hypomelia hypotrichosis facial hemangioma syndrome 43 21
sc pseudothalidomide syndrome 21 49
appelt-gerken-lenz syndrome 43 21
rbs 43 21
congenital lipomatous overgrowth, vascular malformations, and epidermal nevi 61
tetraphocomelia-cleft palate syndrome 21
sc-phocomelia syndrome 19
pseudothalidomide 19
sc phocomelia 49
sc syndrome 21
roberts-sc 19


External Ids:

Disease Ontology8 DOID:5325
MeSH35 C535687
NCIt40 C4681
SNOMED-CT57 48718006
MESH via Orphanet36 C535687
ICD10 via Orphanet26 Q73.8
SNOMED-CT via Orphanet58 48718006
UMLS via Orphanet62 C0392475

Related Diseases for Roberts Syndrome

Sources:
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

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

268300,269000

Clinical synopsis from OMIM:

268300

Symptoms:

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

Drugs & Therapeutics for Roberts Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Roberts Syndrome

Drug clinical trials:

Search ClinicalTrials for Roberts Syndrome

Search NIH Clinical Center for Roberts Syndrome

Search CenterWatch for Roberts Syndrome

Genetic Tests for Roberts Syndrome

Sources:
20GeneTests, 22GTR
See all sources

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

Sources:
33MalaCards
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MalaCards organs/tissues related to Roberts Syndrome:

33
Kidney, Heart

Animal Models for Roberts Syndrome or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Roberts Syndrome:

37
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

Sources:
51PubMed
See all sources

Articles related to Roberts Syndrome:

(show top 50)    (show all 105)
idTitleAuthorsYear
1
Stimulation of mTORC1 with L-leucine rescues defects associated with Roberts syndrome. (24098154)
2013
2
Establishment and characterization of Roberts syndrome and SC phocomelia model medaka (Oryzias latipes). (22694322)
2012
3
Recurrent abortions and down syndrome resulting from Robertsonian translocation 21q; 21q. (23097978)
2012
4
The Roberts syndrome/SC phocomelia spectrum--a case report of an adult with review of the literature. (20101700)
2010
5
Diagnostic Overlap between Fanconi Anemia and the Cohesinopathies: Roberts Syndrome and Warsaw Breakage Syndrome. (21490908)
2010
6
The importance of chromosome studies in Roberts syndrome/SC phocomelia and other cohesinopathies. (19878742)
2010
7
Roberts syndrome: facial dysmorphology in a mildly affected case. (19707122)
2009
8
The cellular phenotype of Roberts syndrome fibroblasts as revealed by ectopic expression of ESCO2. (19738907)
2009
9
The earliest description of an autopsy on a case of Roberts syndrome reported in 1672: some additions. (19533786)
2009
10
Femoral-tibial-synostosis in a child with Roberts syndrome (Pseudothalidomide): a case report. (18710560)
2008
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
Twin pregnancy with Roberts syndrome in one fetus and trisomy 18 in the other. (16547991)
2006
15
Inactivating mutations in ESCO2 cause SC phocomelia and Roberts syndrome: no phenotype-genotype correlation. (16380922)
2005
16
Roberts syndrome, normal cell division, and normal intelligence. (12040206)
2002
17
Novel assay for Roberts syndrome assigns variable phenotypes to one complementation group. (10925387)
2000
18
Norman-Roberts syndrome: prenatal diagnosis and autopsy findings. (10861718)
2000
19
Replication timing of homologous alpha-satellite DNA in Roberts syndrome. (11117361)
2000
20
Cell proliferation rate and nuclear morphometry in Roberts syndrome. (9894798)
1998
21
Tetra-amelia and splenogonadal fusion in Roberts syndrome. (9028456)
1997
22
Craniosynostosis in Roberts syndrome. (9134301)
1997
23
Prenatal diagnosis of Roberts syndrome: two new cases. (8650122)
1996
24
A mild form of Roberts/SC phocomelia syndrome with asymmetrical reduction of the upper limbs. (8832138)
1996
25
Picture of the month. Roberts-SC phocomelia syndrome. (8646318)
1996
26
Tri-amelia and phocomelia with multiple malformations resembling Roberts syndrome in a fetus: is it a variant or a new syndrome? (9147883)
1996
27
Possible genetic heterogeneity in the Roberts-SC phocomelia syndrome. (7558058)
1995
28
Clinical heterogeneity of skeletal dysplasia in Roberts syndrome: a review. (8039795)
1994
29
Roberts-SC phocomelia syndrome: a case with additional anomalies. (8004795)
1994
30
Prenatal diagnosis of Roberts syndrome. (7524059)
1994
31
Roberts syndrome: a review of 100 cases and a new rating system for severity. (8291532)
1993
32
Roberts-SC phocomelia syndrome in a baboon (Papio anubis). (1460857)
1992
33
First-trimester prenatal diagnosis of Roberts syndrome. (1553361)
1992
34
Somatic cell hybridization of Roberts syndrome and normal lymphoblasts resulting in correction of both the cytogenetic and mutagen hypersensitivity cellular phenotypes. (1763386)
1991
35
Prenatal sonographic features and management of a fetus with Roberts-SC phocomelia syndrome (pseudothalidomide syndrome) and pulmonary hypoplasia. (1741870)
1991
36
Roberts syndrome with normal cell division. (2012128)
1991
37
Studies of mitotic and centromeric abnormalities in Roberts syndrome: implications for a defect in the mitotic mechanism. (2055135)
1991
38
The Baller-Gerold syndrome: phenotypic and cytogenetic overlap with Roberts syndrome. (2359099)
1990
39
Centromere separation and aneuploidy in human mitotic mutants: Roberts syndrome. (2696961)
1989
40
Prenatal detection of Roberts-SC phocomelia syndrome: report of 2 sibs with characteristic manifestations. (2658590)
1989
41
Norman-Roberts syndrome. (3377013)
1988
42
Roberts syndrome. (3216639)
1988
43
Roberts syndrome: antenatal ultrasound--a case report. (3042945)
1988
44
Roberts syndrome and SC phocomelia. A single genetic entity. (3568444)
1987
45
Premature centromere splitting in a presumptive mild form of Roberts syndrome. (6698562)
1984
46
Syndromes with lissencephaly. I: Miller-Dieker and Norman-Roberts syndromes and isolated lissencephaly. (6476009)
1984
47
Nuchal cystic hygroma in a fetus with presumed Roberts syndrome. (6859118)
1983
48
Hydranencephaly in association with Roberts syndrome. (667753)
1978
49
The Roberts syndrome. (4220010)
1974
50
Pinealomatous teratoma with varied interesting clinical symptoms 1) diabetes insipidus, 2) panhypopituitarism, 3) hypernatremia and hyperchloremia, 4) pseudo-Argyll-Robertson pupil, 5) Parslnaud's syndrome; a case report. (13574271)
1958

Genetic Variations for Roberts Syndrome

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Roberts Syndrome:

63
id Symbol AA change Variation SNP ID
1ESCO2p.Trp539GlyVAR_022649

Expression for genes affiliated with Roberts Syndrome

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
30KEGG, 38NCBI BioSystems Database, 4Cell Signaling Technology, 54Reactome, 12EMD Millipore
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Compounds for genes affiliated with Roberts Syndrome

GO Terms for genes affiliated with Roberts Syndrome

Sources:
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:03499110.0RAD21, SMC3
2meiotic cohesin complexGO:03089310.0SMC3, SMC1A
3cohesin complexGO:0082789.6RAD21, CDCA5, SMC3
4chromatinGO:0007859.5ESCO1, ESCO2, SMC3
5lateral elementGO:0008009.5SMC3, INCENP
6chromosomeGO:0056949.3SMC3, CDCA5, RAD21, SMC1A
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:0056547.8SMC1A, ESCO2, ESCO1, ZNF143, RAD21, CDCA5
12cytosolGO:0058297.3ZWINT, ZW10, CDCA5, INCENP, RAD21, 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:03287610.0SMC1A, SMC3
3mitotic spindle organizationGO:00705210.0SMC1A, SMC3
4sister chromatid cohesionGO:00706210.0DDX11, SMC3, SMC1A
5regulation of DNA replicationGO:0062759.9ESCO2, ESCO1, SMC3
6stem cell maintenanceGO:0198279.8SMC3, SMC1A, NIPBL
7mitotic sister chromatid cohesionGO:0070649.7NIPBL, SMC1A, CDCA5
8mitotic cell cycle checkpointGO:0070939.6SMC1A, ZW10, ZWINT
9meiosisGO:0071269.6SMC1A, ZW10, SMC3
10mitotic sister chromatid segregationGO:0000709.5DDX11, ZW10, ZWINT, SMC1A
11mitotic metaphase plate congressionGO:0070809.2CDCA5, ZW10
12chromosome segregationGO:0070599.0SGOL1, INCENP, RAD21
13mitosisGO:0070678.6RAD21, INCENP, CDCA5, SMC3, SGOL1
14cell divisionGO:0513018.1SGOL1, SMC1A, SMC3, RAD21, CDCA5, ZW10
15mitotic cell cycleGO:0002786.8ZWINT, ZW10, NIPBL, CDCA5, INCENP, RAD21

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

idNameGO IDScoreTop Affiliating Genes
1transferase activity, transferring acyl groupsGO:0167469.9ESCO1, ESCO2
2mediator complex bindingGO:0360339.7NIPBL, SMC1A, SMC3
3chromatin bindingGO:0036828.9SMC1A, CDCA5, NIPBL, 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

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet