ESCO2 gene related symptoms and diseases

All the information presented here about the ESCO2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,ORPHANET,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to ESCO2 gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Blue sclerae Very Common - Between 80% and 100% cases
Polyhydramnios Very Common - Between 80% and 100% cases
Absent radius Very Common - Between 80% and 100% cases
Postnatal growth retardation Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with ESCO2 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Paralysis
  • Craniosynostosis
  • Sparse hair
  • Prominent nasal bridge
  • Corneal opacity
  • Cleft upper lip
  • Aplasia of the ulna
  • Wrist flexion contracture

And 135 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to ESCO2 gene

Here you will find a list of rare diseases related to the ESCO2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


ROBERTS SYNDROME


Alternate names

ROBERTS SYNDROME Is also known as pseudothalidomide syndrome, roberts-sc phocomelia syndrome, sc pseudothalidomide syndrome, sc phocomelia

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.

Most common symptoms of ROBERTS SYNDROME

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


More info about ROBERTS SYNDROME

SOURCES: OMIM ORPHANET

ROBERTS SYNDROME; RBS


Alternate names

ROBERTS SYNDROME; RBS Is also known as long bone deficiencies associated with cleft lip-palate

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).

Most common symptoms of ROBERTS SYNDROME; RBS

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


More info about ROBERTS SYNDROME; RBS

SOURCES: OMIM


Potential gene panels for ESCO2 gene

Abnormal/Ambiguous Genitalia Sequencing Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Abnormal/Ambiguous Genitalia Sequencing Panel that also includes the following genes: ROR2 SALL1 BMP4 SEMA3A SOX9 SRD5A2 SRY STAR TBX15 CEP41

More info about this panel

ESCO2 sequencing Panel

United States.

By Genetic Services Laboratory University of Chicago

This panel specifically test the ESCO2 gene.

More info about this panel

Cornelia de Lange Syndrome PLUS Sequencing Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Cornelia de Lange Syndrome PLUS Sequencing Panel that also includes the following genes: ROR2 SMARCA2 SMARCA4 SMARCB1 SMARCE1 ARID1A SMC1A SOX11 WNT5A HDAC8

More info about this panel

Hypospadias Sequencing Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Hypospadias Sequencing Panel that also includes the following genes: SALL1 BMP4 SOX2 SRD5A2 HNF1B MED12 WNT7A WT1 FBXL4 ZEB2

More info about this panel

ESCO2 deletion/duplication analysis Panel

United States.

By Genetic Services Laboratory University of Chicago

This panel specifically test the ESCO2 gene.

More info about this panel

Cornelia de Lange PLUS Deletion/Duplication Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Cornelia de Lange PLUS Deletion/Duplication Panel that also includes the following genes: ROR2 SMARCA2 SMARCA4 SMARCB1 SMARCE1 ARID1A SMC1A SOX11 WNT5A HDAC8

More info about this panel

ESCO2. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the ESCO2 gene.

More info about this panel

Roberts Syndrome (sequence analysis of ESCO2 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the ESCO2 gene.

More info about this panel

Craniosynostosis (NGS panel for 30 genes) Panel

Portugal.

By CGC Genetics Craniosynostosis (NGS panel for 30 genes) that also includes the following genes: BMP4 SKI TCF12 TGFBR1 TGFBR2 TWIST1 IFT122 RAB23 IRX5 TMCO1

More info about this panel

Hypospadias Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Hypospadias Sequencing Panel with CNV Detection that also includes the following genes: SALL1 BMP4 BMP7 SOX2 SRD5A2 HNF1B MED12 WNT7A WT1 FBXL4

More info about this panel

Congenital Limb Malformation Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Congenital Limb Malformation Sequencing Panel with CNV Detection that also includes the following genes: ROR2 SALL1 BMP2 BMPR1B SF3B4 FBXW4 SHH BRCA2 SOX9 TBX15

More info about this panel

Roberts Syndrome via ESCO2 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the ESCO2 gene.

More info about this panel

Cornelia de Lange Syndrome and Cornelia de Lange Syndrome-Related Disorders Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Cornelia de Lange Syndrome and Cornelia de Lange Syndrome-Related Disorders Sequencing Panel with CNV Detection that also includes the following genes: SMARCA4 SMARCB1 SMARCE1 ARID1A SMC1A SOX11 TAF1 TAF6 MED12 HDAC8

More info about this panel

Disorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Disorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection that also includes the following genes: ROR2 SALL1 BMP15 BMP4 SEMA3A SEMA3E BMP7 FOXL2 BRDT SOS1

More info about this panel

Disorders of Sex Development (DSD) Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Disorders of Sex Development (DSD) Sequencing Panel with CNV Detection that also includes the following genes: ROR2 SALL1 BMP15 BMP4 SEMA3A BMP7 FOXL2 SOS1 SOX10 SOX2

More info about this panel

Ambiguous Genitalia Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Ambiguous Genitalia Sequencing Panel with CNV Detection that also includes the following genes: ROR2 SALL1 BMP4 SEMA3A SOS1 SOX10 SOX2 SOX3 SOX9 SRD5A2

More info about this panel

Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection that also includes the following genes: RMRP ROR2 RUNX2 SALL1 BMP1 BMP2 BMPR1B SF3B4 SH3BP2 FBXW4

More info about this panel

Mental retardation - different panels Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Mental retardation - different panels that also includes the following genes: RGS7 RIT1 RMRP BCS1L RPL10 RPS6KA3 RRAS SALL1 SC5D ATXN10

More info about this panel

Roberts syndrome Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the ESCO2 gene.

More info about this panel

SC Phocomelia syndrome Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the ESCO2 gene.

More info about this panel

AllNeuro panel Panel

Germany.

By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1

More info about this panel

Roberts syndrome Panel

Germany.

By bio.logis Center for Human Genetics Diagnosticum

This panel specifically test the ESCO2 gene.

More info about this panel

Selected Genetic Syndromes with skeletal involvement Panel Panel

Germany.

By CeGaT GmbH Selected Genetic Syndromes with skeletal involvement Panel that also includes the following genes: SALL1 SF3B4 TBCE TBX15 TBX3 TBX5 NIN SALL4 PCNT ORC6

More info about this panel

Skeletal Dysplasia Panel

Estonia.

By Asper Biogene Asper Biogene LLC Skeletal Dysplasia that also includes the following genes: ROR2 SLC26A2 SOX9 TRIP11 WNT5A ESCO2 FGFR2 FGFR3 ALPL

More info about this panel

Limb Malformation: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Limb Malformation: Sequencing Panel that also includes the following genes: ROR2 SALL1 BMP2 BMPR1B FBXW4 SHH SOX9 TBX15 TBX3 TBX5

More info about this panel

Skeletal Dysplasia: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Skeletal Dysplasia: Sequencing Panel that also includes the following genes: ROR2 RUNX2 SALL1 BMP2 BMPR1B FBXW4 SHH SHOX SLC25A12 SLC26A2

More info about this panel

Skeletal Dysplasias NGS panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Skeletal Dysplasias NGS panel that also includes the following genes: ROR2 RUNX2 SALL1 BMP2 BMPR1B FBXW4 SHH SLC25A12 SLC26A2 SMARCAL1

More info about this panel

ESCO2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the ESCO2 gene.

More info about this panel

Brachydactyly / Syndactyly Panel Panel

Finland.

By Blueprint Genetics Brachydactyly / Syndactyly Panel that also includes the following genes: ROR2 BMP2 BMPR1B SOX9 TP63 CHSY1 ESCO2 CCNQ DHCR7 GDF5

More info about this panel

Craniosynostosis Panel Panel

Finland.

By Blueprint Genetics Craniosynostosis Panel that also includes the following genes: BMP4 SKI SOX10 TCF12 TGFBR1 TGFBR2 TWIST1 ZIC1 IFT122 RAB23

More info about this panel

Skeletal Dysplasias Core Panel Panel

Finland.

By Blueprint Genetics Skeletal Dysplasias Core Panel that also includes the following genes: RMRP ROR2 RUNX2 BMP1 BMPR1B SHOX SLC26A2 SMARCAL1 SOX9 TCIRG1

More info about this panel

Comprehensive Skeletal Dysplasias and Disorders Panel Panel

Finland.

By Blueprint Genetics Comprehensive Skeletal Dysplasias and Disorders Panel that also includes the following genes: RMRP ROR2 BGN RUNX2 BMP1 BMP2 BMPR1B SF3B4 SH3BP2 SHOX

More info about this panel

Limb Malformations Panel Panel

Finland.

By Blueprint Genetics Limb Malformations Panel that also includes the following genes: SALL1 SF3B4 BRCA2 SMC1A TBX3 TBX5 WNT7A XRCC2 HDAC8 NSDHL

More info about this panel

Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel Panel

Finland.

By Blueprint Genetics Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel that also includes the following genes: RIT1 RMRP BCS1L ROR2 BGN RRAS RUNX2 BMP1 BMP2 SEC24D

More info about this panel

Combined Skeletal Dysplasia/Osteogenesis Imperfecta Panel Panel

United States.

By Insight Medical Genetics Combined Skeletal Dysplasia/Osteogenesis Imperfecta Panel that also includes the following genes: ROR2 BMP1 SLC26A2 SOX9 TWIST1 WNT1 SERPINH1 IFITM5 SP7 FKBP10

More info about this panel

Roberts syndrome Panel

Spain.

By Bioarray

This panel specifically test the ESCO2 gene.

More info about this panel

ROBERTS SYNDROME Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the ESCO2 gene.

More info about this panel

CRANIOSYNOSTOSIS NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL CRANIOSYNOSTOSIS NGS PANEL that also includes the following genes: BMP4 SKI TCF12 TGFBR1 TGFBR2 TWIST1 IFT122 RAB23 WDR19 FREM1

More info about this panel

Roberts Syndrome, Sequencing ESCO2 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the ESCO2 gene.

More info about this panel

Brachydactyly , Panel Massive Sequencing (NGS) 18 Genes Panel

Spain.

By Reference Laboratory Genetics Brachydactyly , Panel Massive Sequencing (NGS) 18 Genes that also includes the following genes: ROR2 BMP2 BMPR1B SOX9 TBX15 WNT7A TP63 CHSY1 ESCO2 GDF5

More info about this panel

Tempus xO assay Panel

United States.

By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2

More info about this panel

CEN4GEN Comprehensive Hereditary Cancer Syndrome: Gene sequencing Panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics CEN4GEN Comprehensive Hereditary Cancer Syndrome: Gene sequencing Panel that also includes the following genes: RNASEL RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2

More info about this panel

Roberts Syndrome: gene sequencing Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics

This panel specifically test the ESCO2 gene.

More info about this panel


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