Roberts Syndrome

Description

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.

Clinical Features

Top most frequent phenotypes and symptoms related to Roberts Syndrome

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Growth delay
  • Hypertelorism
  • Nystagmus
  • Neoplasm
  • Micrognathia

And another 86 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Roberts Syndrome Is also known as pseudothalidomide syndrome, roberts-sc phocomelia syndrome, sc pseudothalidomide syndrome, sc phocomelia.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Roberts Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Abnormal/Ambiguous Genitalia Sequencing Panel.

By Genetic Services Laboratory University of Chicago (United States).

ROR2, SALL1, BMP4, SEMA3A, SOX9, SRD5A2, SRY, STAR, TBX15, CEP41, TSPYL1, WNT4, WNT7A, WT1, SETBP1, ZFPM2, UBR1, FIG4, IL17RD, CDKN1C , (...)

View the complete list with 52 more genes
Specificity
2 %
Genes
100 %
ESCO2 sequencing.

By Genetic Services Laboratory University of Chicago (United States).

ESCO2
Specificity
100 %
Genes
100 %
Cornelia de Lange Syndrome PLUS Sequencing Panel.

By Genetic Services Laboratory University of Chicago (United States).

ROR2, SMARCA2, SMARCA4, SMARCB1, SMARCE1, ARID1A, SMC1A, SOX11, WNT5A, HDAC8, ADNP, ARID1B, PHF6, ANKRD11, CREBBP, SMC3, ESCO2, NIPBL, TBC1D24, EP300 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
Hypospadias Sequencing Panel.

By Genetic Services Laboratory University of Chicago (United States).

SALL1, BMP4, SOX2, SRD5A2, HNF1B, MED12, WNT7A, WT1, FBXL4, ZEB2, SETBP1, TP63, PCNT, UBR1, FIG4, CDKN1C, ARX, GRIP1, FRAS1, EVC2 , (...)

View the complete list with 41 more genes
Specificity
2 %
Genes
100 %
ESCO2 deletion/duplication analysis.

By Genetic Services Laboratory University of Chicago (United States).

ESCO2
Specificity
100 %
Genes
100 %
Cornelia de Lange PLUS Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago (United States).

ROR2, SMARCA2, SMARCA4, SMARCB1, SMARCE1, ARID1A, SMC1A, SOX11, WNT5A, HDAC8, ADNP, AFF4, ARID1B, PHF6, ANKRD11, CREBBP, SMC3, ESCO2, NIPBL, TBC1D24 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %
ESCO2. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

ESCO2
Specificity
100 %
Genes
100 %
Roberts Syndrome (sequence analysis of ESCO2 gene).

By CGC Genetics (Portugal).

ESCO2
Specificity
100 %
Genes
100 %

We have 35 more panels available in our App

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Sources and references

You can check the following sources for additional information.

OMIM ORPHANET Rare Disease Symptoms Checker

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