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Roberts syndrome

MedGen UID:
985597
•Concept ID:
CN300934
•
Disease or Syndrome
Synonyms: Appelt-Gerken-Lenz syndrome; Pseudothalidomide syndrome; Roberts tetraphocomelia syndrome
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (Orphanet)
 
Orphanet: ORPHA3103

Definition

Roberts syndrome (RBS) is characterized by pre- and postnatal growth retardation, severe symmetric limb reduction defects, craniofacial anomalies and severe intellectual deficit. SC phocomelia is a milder form of RBS. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

ROBERTS SYNDROME: CLINICAL AND CYTOGENETIC STUDIES IN 8 EGYPTIAN PATIENTS AND MOLECULAR STUDIES IN 4 PATIENTS WITH GENOTYPE/PHENOTYPE CORRELATION.
Ismail S, Essawi M, Sedky N, Hassan H, Fayez A, Helmy N, Shehab M, Farouk D, Elruby M, Otaify G, Eldarsh A, Hosny L, Gaber K, Aboul-Ezz EHA, Ramzy MI, Mehrez MI, Hassib NF, Elhadidi SMA, Aglan MS, Temtamy SA
Genet Couns 2016;27(3):305-323. PMID: 30204960
Early prenatal diagnosis of skeletal anomalies.
Khalil A, Pajkrt E, Chitty LS
Prenat Diagn 2011 Jan;31(1):115-24. doi: 10.1002/pd.2676. PMID: 21210484
Roberts syndrome: first-trimester prenatal diagnosis.
Otaño L, Matayoshi T, Gadow EC
Prenat Diagn 1996 Aug;16(8):770-1. doi: 10.1002/(SICI)1097-0223(199608)16:8<770::AID-PD936>3.0.CO;2-9. PMID: 8878291

Recent clinical studies

Etiology

Etiology and pathogenesis of the cohesinopathies.
Zakari M, Yuen K, Gerton JL
Wiley Interdiscip Rev Dev Biol 2015 Sep-Oct;4(5):489-504. Epub 2015 Apr 7 doi: 10.1002/wdev.190. PMID: 25847322Free PMC Article
Skeletal dysplasias: 38 prenatal cases.
Witters I, Moerman P, Fryns JP
Genet Couns 2008;19(3):267-75. PMID: 18990981
Syndromes, disorders and maternal risk factors associated with neural tube defects (V).
Chen CP
Taiwan J Obstet Gynecol 2008 Sep;47(3):259-66. doi: 10.1016/S1028-4559(08)60122-9. PMID: 18935987
Microcephaly: general considerations and aids to nosology.
Opitz JM, Holt MC
J Craniofac Genet Dev Biol 1990;10(2):175-204. PMID: 2211965
Prenatal diagnosis of renal anomalies.
Kaffe S, Rose JS, Godmilow L, Walker BA, Kerenyi T, Beratis N, Reyes P, Hirschhorn K
Am J Med Genet 1977;1(2):241-51. doi: 10.1002/ajmg.1320010210. PMID: 610432

Diagnosis

Pseudo-Roberts Syndrome: An Entity or Not?
Salari B, Dehner LP
Fetal Pediatr Pathol 2022 Jun;41(3):396-402. Epub 2020 Oct 7 doi: 10.1080/15513815.2020.1827320. PMID: 33026893
Genome stability: What we have learned from cohesinopathies.
Cucco F, Musio A
Am J Med Genet C Semin Med Genet 2016 Jun;172(2):171-8. Epub 2016 Apr 19 doi: 10.1002/ajmg.c.31492. PMID: 27091086
Cohesinopathies of a feather flock together.
Skibbens RV, Colquhoun JM, Green MJ, Molnar CA, Sin DN, Sullivan BJ, Tanzosh EE
PLoS Genet 2013;9(12):e1004036. Epub 2013 Dec 19 doi: 10.1371/journal.pgen.1004036. PMID: 24367282Free PMC Article
The Baller-Gerold syndrome: phenotypic and cytogenetic overlap with Roberts syndrome.
Huson SM, Rodgers CS, Hall CM, Winter RM
J Med Genet 1990 Jun;27(6):371-5. doi: 10.1136/jmg.27.6.371. PMID: 2359099Free PMC Article
The Roberts' syndrome.
Waldenmaier C, Aldenhoff P, Klemm T
Hum Genet 1978 Feb 16;40(3):345-9. doi: 10.1007/BF00272196. PMID: 631853

Therapy

Esco2 and cohesin regulate CRL4 ubiquitin ligase ddb1 expression and thalidomide teratogenicity.
Sanchez AC, Thren ED, Iovine MK, Skibbens RV
Cell Cycle 2022 Mar;21(5):501-513. Epub 2022 Jan 6 doi: 10.1080/15384101.2021.2023304. PMID: 34989322Free PMC Article
The role of ESCO2, SALL4 and TBX5 genes in the susceptibility to thalidomide teratogenesis.
Gomes JDA, Kowalski TW, Fraga LR, Macedo GS, Sanseverino MTV, Schuler-Faccini L, Vianna FSL
Sci Rep 2019 Aug 6;9(1):11413. doi: 10.1038/s41598-019-47739-8. PMID: 31388035Free PMC Article
Bilaterally cleft lip, limb defects, and haematological manifestations: Roberts syndrome versus TAR syndrome.
Urban M, Opitz C, Bommer C, Enders H, Tinschert S, Witkowski R
Am J Med Genet 1998 Sep 23;79(3):155-60. doi: 10.1002/(sici)1096-8628(19980923)79:3<155::aid-ajmg1>3.0.co;2-m. PMID: 9788553
Studies of mitotic and centromeric abnormalities in Roberts syndrome: implications for a defect in the mitotic mechanism.
Jabs EW, Tuck-Muller CM, Cusano R, Rattner JB
Chromosoma 1991 May;100(4):251-61. doi: 10.1007/BF00344159. PMID: 2055135

Prognosis

Hypopigmented patches in Roberts/SC phocomelia syndrome occur via aneuploidy susceptibility.
Sezer A, Kayhan G, Zenker M, Percin EF
Eur J Med Genet 2019 Dec;62(12):103608. Epub 2018 Dec 24 doi: 10.1016/j.ejmg.2018.12.013. PMID: 30590172
Skeletal dysplasias: 38 prenatal cases.
Witters I, Moerman P, Fryns JP
Genet Couns 2008;19(3):267-75. PMID: 18990981
Syndromes, disorders and maternal risk factors associated with neural tube defects (V).
Chen CP
Taiwan J Obstet Gynecol 2008 Sep;47(3):259-66. doi: 10.1016/S1028-4559(08)60122-9. PMID: 18935987
Inactivating mutations in ESCO2 cause SC phocomelia and Roberts syndrome: no phenotype-genotype correlation.
Schüle B, Oviedo A, Johnston K, Pai S, Francke U
Am J Hum Genet 2005 Dec;77(6):1117-28. Epub 2005 Oct 31 doi: 10.1086/498695. PMID: 16380922Free PMC Article
Microcephaly: general considerations and aids to nosology.
Opitz JM, Holt MC
J Craniofac Genet Dev Biol 1990;10(2):175-204. PMID: 2211965

Clinical prediction guides

The expanding phenotypes of cohesinopathies: one ring to rule them all!
Piché J, Van Vliet PP, Pucéat M, Andelfinger G
Cell Cycle 2019 Nov;18(21):2828-2848. Epub 2019 Sep 13 doi: 10.1080/15384101.2019.1658476. PMID: 31516082Free PMC Article
Clinical Report: Warsaw Breakage Syndrome with small radii and fibulae.
Eppley S, Hopkin RJ, Mendelsohn B, Slavotinek AM
Am J Med Genet A 2017 Nov;173(11):3075-3081. Epub 2017 Sep 28 doi: 10.1002/ajmg.a.38382. PMID: 28960803
Genome stability: What we have learned from cohesinopathies.
Cucco F, Musio A
Am J Med Genet C Semin Med Genet 2016 Jun;172(2):171-8. Epub 2016 Apr 19 doi: 10.1002/ajmg.c.31492. PMID: 27091086
Skeletal dysplasias: 38 prenatal cases.
Witters I, Moerman P, Fryns JP
Genet Couns 2008;19(3):267-75. PMID: 18990981
Roberts syndrome: study of 4 new Rgyptian cases with comparison of clinical and cytogenetic findings.
Temtamy SA, Ismail S, Helmy NA
Genet Couns 2006;17(1):1-13. PMID: 16719272

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