Roberts Syndrome; Rbs

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

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).

Genes related to Roberts Syndrome; Rbs

ESCO2

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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.

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 Panel complete gene list ROR2, SALL1, BMP4, SEMA3A, SOX9, SRD5A2, SRY, STAR, TBX15, CEP41, TSPYL1, WNT4, WNT7A, WT1, SETBP1, ZFPM2, UBR1, FIG4, IL17RD, CDKN1C, ARX, GRIP1, FRAS1, SCARF2, B3GLCT, CHD7, BCOR, ICK, RSPO1, WDR60, FEZF1, FAT4, CREBBP, TCTN3, FREM2, CYB5A, CYP11A1, CYP11B1, CYP17A1, CYP19A1, ESCO2, CCNQ, DHCR24, DHCR7, DHH, SPECC1L, DYNC2H1, DNMT3B, NSMF, AKR1C2, GATA4, KISS1R, HCCS, RIPK4, HOXA13, HSD17B3, HSD3B2, IRF6, ANOS1, AR, LHCGR, LMNA, MAP3K1, MKKS, MKS1, NEK1, NR0B1, NR5A1, OPHN1, ATRX, POR, PTPN11 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 Panel complete gene list ROR2, SMARCA2, SMARCA4, SMARCB1, SMARCE1, ARID1A, SMC1A, SOX11, WNT5A, HDAC8, ADNP, ARID1B, PHF6, ANKRD11, CREBBP, SMC3, ESCO2, NIPBL, TBC1D24, EP300, RAD21 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 Panel complete gene list SALL1, BMP4, SOX2, SRD5A2, HNF1B, MED12, WNT7A, WT1, FBXL4, ZEB2, SETBP1, TP63, PCNT, UBR1, FIG4, CDKN1C, ARX, GRIP1, FRAS1, EVC2, B3GLCT, BCOR, CUL7, FAT4, CREBBP, FREM2, MAMLD1, CYP11A1, TMEM70, ESCO2, DHCR7, SPECC1L, WDR35, EPG5, DNMT3B, EFNB1, EVC, FGF10, FGFR1, FGFR2, FGFR3, FLNA, GLI3, GPC3, HBA1, HCCS, HOXA13, HSD3B2, IRF6, AR, MAP3K1, MID1, MKKS, NR5A1, PDE4D, PEX1, ATRX, PITX2, PTDSS1, PTPN11, RBBP8 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 Panel complete gene list ROR2, SMARCA2, SMARCA4, SMARCB1, SMARCE1, ARID1A, SMC1A, SOX11, WNT5A, HDAC8, ADNP, AFF4, ARID1B, PHF6, ANKRD11, CREBBP, SMC3, ESCO2, NIPBL, TBC1D24, EP300, RAD21 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 %

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

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