Roberts Syndrome; Rbs

Description

Roberts syndrome is a rare autosomal recessive disorder characterized by tetraphocomelia (symmetrical limb reduction), craniofacial anomalies, growth retardation, mental retardation, and cardiac and renal abnormalities (summary by Goh et al., 2010).

Clinical Features

Top most frequent phenotypes and symptoms related to Roberts Syndrome; Rbs

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Growth delay
  • Hypertelorism
  • Micrognathia
  • Cleft palate
  • Cataract

And another 97 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; Rbs Is also known as long bone deficiencies associated with cleft lip-palate.

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; Rbs 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 Rare Disease Symptoms Checker

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE; TTD1 STANKIEWICZ-ISIDOR SYNDROME; STISS BREASTS AND/OR NIPPLES, APLASIA OR HYPOPLASIA OF, 1; BNAH1 HYPERTRICHOSIS-ACROMEGALOID FACIAL APPEARANCE SYNDROME

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