Meier-gorlin Syndrome 1; Mgors1

Description

The Meier-Gorlin syndrome is a rare disorder characterized by severe intrauterine and postnatal growth retardation, microcephaly, bilateral microtia, and aplasia or hypoplasia of the patellae (summary by Shalev and Hall, 2003). While almost all cases have primordial dwarfism with substantial prenatal and postnatal growth retardation, not all cases have microcephaly, and microtia and absent/hypoplastic patella are absent in some. Despite the presence of microcephaly, intellect is usually normal (Bicknell et al., 2011). Genetic Heterogeneity of Meier-Gorlin SyndromeMost forms of Meier-Gorlin syndrome are autosomal recessive disorders, including Meier-Gorlin syndrome-1; Meier-Gorlin syndrome-2 (OMIM ), caused by mutation in the ORC4 gene (OMIM ) on chromosome 2q23; Meier-Gorlin syndrome-3 (OMIM ), caused by mutation in the ORC6 gene (OMIM ) on chromosome 16q11; Meier-Gorlin syndrome-4 (OMIM ), caused by mutation in the CDT1 gene (OMIM ) on chromosome 16q24; Meier-Gorlin syndrome-5 (OMIM ), caused by mutation in the CDC6 gene (OMIM ) on chromosome 17q21; Meier-Gorlin syndrome-7 (OMIM ), caused by mutation in the CDC45L gene (OMIM ) on chromosome 22q11; and Meier-Gorlin syndrome-8 (OMIM ), caused by mutation in the MCM5 gene (OMIM ) on chromosome 22q12.An autosomal dominant form of the disorder, Meier-Gorlin syndrome-6 (OMIM ), is caused by mutation in the GMNN gene (OMIM ) on chromosome 6p22.

Clinical Features

Top most frequent phenotypes and symptoms related to Meier-gorlin Syndrome 1; Mgors1

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Pica
  • Hearing impairment
  • Microcephaly
  • Scoliosis
  • Growth delay
  • Micrognathia
  • Strabismus
And another 107 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

Not enough data available about incidence and published cases.


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Meier-gorlin Syndrome 1; Mgors1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Meier-Gorlin Syndrome Panel.

By Genetic Services Laboratory University of Chicago in United States.

ORC1, GMNN, CDC6, CDT1, ORC6, ORC4
Specificity
100 %
Genes
86 %
Comprehensive Primordial Dwarfism Panel.

By Genetic Services Laboratory University of Chicago in United States.

CENPJ, CEP152, CDK5RAP2, PCNT, ATR, DNA2, TRIM37, RBBP8, LIG4, RTTN, CUL7, SASS6, CEP63, TRAIP, ORC1, GMNN, CDC6, CDT1, ORC6, ORC4 , (...)

View the complete list with 8 more genes
Specificity
22 %
Genes
86 %
Microcephalic primordial dwarfism Comprehensive panel.

By Connective Tissue Gene Tests in United States.

CENPJ, CEP152, PCNT, ATR, DNA2, RBBP8, LIG4, CEP63, TRAIP, NIN, CDC45, ORC1, GMNN, CDC6, CDT1, ORC6, ORC4, RNU4ATAC, XRCC4, ATRIP , (...)

View the complete list with 1 more genes
Specificity
34 %
Genes
100 %
Microcephalic primordial dwarfism Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

CENPJ, CEP152, PCNT, ATR, DNA2, RBBP8, LIG4, CEP63, TRAIP, NIN, CDC45, ORC1, GMNN, CDC6, CDT1, ORC6, ORC4, RNU4ATAC, XRCC4, ATRIP , (...)

View the complete list with 1 more genes
Specificity
34 %
Genes
100 %
Meier-Gorlin syndrome NGS panel.

By Connective Tissue Gene Tests in United States.

CDC45, ORC1, GMNN, CDC6, CDT1, ORC6, ORC4, MCM5
Specificity
88 %
Genes
100 %
Microcephalic primordial dwarfism NGS panel.

By Connective Tissue Gene Tests in United States.

CENPJ, CEP152, PCNT, ATR, DNA2, RBBP8, LIG4, CEP63, TRAIP, NIN, CDC45, ORC1, GMNN, CDC6, CDT1, ORC6, ORC4, RNU4ATAC, XRCC4, ATRIP , (...)

View the complete list with 1 more genes
Specificity
34 %
Genes
100 %
Meier-Gorlin syndrome Comprehensive panel.

By Connective Tissue Gene Tests in United States.

CDC45, ORC1, GMNN, CDC6, CDT1, ORC6, ORC4, MCM5
Specificity
88 %
Genes
100 %
Meier-Gorlin syndrome Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

CDC45, ORC1, GMNN, CDC6, CDT1, ORC6, ORC4, MCM5
Specificity
88 %
Genes
100 %
Mental retardation - different panels.

By Institute of Human Genetics Cologne University in Germany.

FMR1, UBE3A, PTEN, MCCC1, MCCC2, ACAD9, PC, ANKH, HLCS, ATP7A, AUH, B4GALT7, BCKDHA, BCKDHB, BCS1L, C12orf65, ADSL, MMACHC, PRKCG, PAX6 , (...)

View the complete list with 847 more genes
Specificity
1 %
Genes
29 %
GMNN.

By Fulgent Genetics Fulgent Genetics in United States.

GMNN
Specificity
100 %
Genes
15 %
Microcephaly Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

UBE3A, SLC25A19, MECP2, SLC9A6, WWOX, CDKL5, FOXG1, SLC2A1, WDR62, NBN, MCPH1, ASPM, ARFGEF2, CENPJ, QARS, NDE1, PQBP1, RAB3GAP1, TSEN54, STIL , (...)

View the complete list with 50 more genes
Specificity
8 %
Genes
72 %
Microcephaly Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago in United States.

UBE3A, SLC25A19, MECP2, SLC9A6, WWOX, CDKL5, FOXG1, SLC2A1, WDR62, NBN, MCPH1, ASPM, ARFGEF2, CENPJ, QARS, NDE1, PQBP1, RAB3GAP1, TSEN54, STIL , (...)

View the complete list with 59 more genes
Specificity
7 %
Genes
72 %
Meier-Gorlin Syndrome 2.

By Molecular Diagnostics Lab Nemours Alfred I. duPont Hospital for Children in United States.

ORC4
Specificity
100 %
Genes
15 %
Meier-Gorlin Syndrome Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

ORC1, CDC6, CDT1, ORC6, ORC4
Specificity
100 %
Genes
72 %
Meier-Gorlin Syndrome via ORC4 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

ORC4
Specificity
100 %
Genes
15 %
Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, IFITM5, LRP5, COL2A1, COL1A1, COL1A2, COL3A1, SOST, TGFB1, LEMD3, TNFRSF11A, CLCN7, SHH, FBN1, DHODH , (...)

View the complete list with 238 more genes
Specificity
2 %
Genes
72 %
Selected Genetic Syndromes with skeletal involvement Panel.

By CeGaT GmbH in Germany.

RECQL4, LMX1B, FGFR3, CREBBP, FGFR2, CDKN1C, CENPJ, SALL1, CEP152, PCNT, ATR, GDF6, SH3PXD2B, DNA2, FGF10, SALL4, TBX5, EP300, RBBP8, GDF3 , (...)

View the complete list with 22 more genes
Specificity
12 %
Genes
72 %
Single gene testing ORC4.

By CeGaT GmbH in Germany.

ORC4
Specificity
100 %
Genes
15 %
Neurology: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

UBE3A, ADSL, TUBB3, CC2D2A, TMEM67, NPHP1, ADGRV1, CEP290, SHH, POLG, SLC25A19, MECP2, LIAS, GAMT, GATM, STXBP1, TUBA1A, RARS2, CTSD, SLC25A22 , (...)

View the complete list with 144 more genes
Specificity
3 %
Genes
58 %
Primordial Dwarfism NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

CENPJ, CEP152, PCNT, ATR, RBBP8, CEP63, ORC1, CDC6, CDT1, ORC6, ORC4, RNU4ATAC
Specificity
42 %
Genes
72 %
Meier-Gorlin Syndrome NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

ORC1, CDC6, CDT1, ORC6, ORC4
Specificity
100 %
Genes
72 %
ORC4.

By Fulgent Genetics Fulgent Genetics in United States.

ORC4
Specificity
100 %
Genes
15 %
Comprehensive Short Stature Syndrome Panel.

By Blueprint Genetics in Finland.

BCS1L, PITX2, OTX2, RAF1, SOX2, HESX1, FGFR3, BRAF, CREBBP, DHCR7, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1, HDAC8, RIT1, MAP2K2 , (...)

View the complete list with 55 more genes
Specificity
8 %
Genes
86 %
Meier-Gorlin Syndrome Panel.

By Blueprint Genetics in Finland.

CDC45, ORC1, CDC6, CDT1, ORC6, ORC4
Specificity
100 %
Genes
86 %
3-M Syndrome / Primordial Dwarfism Panel.

By Blueprint Genetics in Finland.

BCS1L, CENPJ, CEP152, PCNT, ATR, TRIM37, RBBP8, NOTCH2, SRCAP, RTTN, CUL7, CEP63, CDC45, ORC1, CDC6, CDT1, ORC6, ORC4, RNU4ATAC, XRCC4 , (...)

View the complete list with 4 more genes
Specificity
25 %
Genes
86 %
Skeletal Dysplasias Core Panel.

By Blueprint Genetics in Finland.

ALPL, ANKH, FKBP10, LRP5, COL2A1, COL1A1, COL1A2, TGFB1, TNFRSF11A, CLCN7, SERPINF1, SLC39A13, P3H1, CRTAP, PLOD2, AGPS, CTSK, CYP27B1, FAM20C, CA2 , (...)

View the complete list with 91 more genes
Specificity
5 %
Genes
72 %
Comprehensive Skeletal Dysplasias and Disorders Panel.

By Blueprint Genetics in Finland.

RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, LRP5, COL2A1, COL1A1, COL1A2, SOST, TGFB1, LEMD3, TNFRSF11A, PYCR1, CLCN7, ATP6V0A2, FBN1, SERPINF1, SP7 , (...)

View the complete list with 226 more genes
Specificity
3 %
Genes
86 %
Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel.

By Blueprint Genetics in Finland.

RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, BCS1L, IFITM5, LRP5, COL2A1, COL1A1, COL1A2, COL3A1, SOST, TGFB1, LEMD3, TNFRSF11A, PYCR1, CLCN7, ATP6V0A2 , (...)

View the complete list with 288 more genes
Specificity
2 %
Genes
86 %
Meier-Gorlin Syndrome NGS and Deletion/Duplication Panel.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

ORC1, CDC6, CDT1, ORC6, ORC4
Specificity
100 %
Genes
72 %
ORC4 Gene Sequencing and Deletion/Duplication Analysis.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

ORC4
Specificity
100 %
Genes
15 %
Primordial Dwarfism and Related Disorders , Panel Massive Sequencing (NGS) 12 Genes.

By Reference Laboratory Genetics in Spain.

CENPJ, CEP152, PCNT, ATR, RBBP8, CEP63, ORC1, CDC6, CDT1, ORC6, ORC4, RNU4ATAC
Specificity
42 %
Genes
72 %
Meier-Gorlin Syndrome , Panel Massive Sequencing (NGS) 5 Genes.

By Reference Laboratory Genetics in Spain.

ORC1, CDC6, CDT1, ORC6, ORC4
Specificity
100 %
Genes
72 %
Craniofacial Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

RECQL4, FAM20C, FGFR3, RUNX2, FGFR2, FGFR1, FLNA, WDR35, RAB23, POR, MSX2, TWIST1, TGFBR1, TGFBR2, SKI, GLI3, WDR19, ALX4, EFNB1, IFT43 , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
15 %
Craniofacial Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago in United States.

RECQL4, FAM20C, FGFR3, RUNX2, FGFR2, FGFR1, FLNA, WDR35, RAB23, POR, MSX2, TWIST1, TGFBR1, TGFBR2, SKI, GLI3, WDR19, ALX4, EFNB1, IFT43 , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
15 %
Craniosynostosis.

By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center in United States.

RECQL4, FGFR3, RUNX2, FGFR2, FGFR1, WDR35, RAB23, POR, MSX2, TWIST1, TGFBR1, TGFBR2, SKI, GLI3, WDR19, EFNB1, ASXL1, IFT43, IL11RA, IFT122 , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
15 %
Craniosynostosis Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

RECQL4, FGFR3, FGFR2, FGFR1, WDR35, RAB23, POR, MSX2, TWIST1, TGFBR1, TGFBR2, SKI, GLI3, WDR19, EFNB1, IFT43, IL11RA, IFT122, FREM1, CDC45 , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
15 %
Craniosynostosis Comprehensive panel.

By Connective Tissue Gene Tests in United States.

RECQL4, FGFR3, FGFR2, FGFR1, WDR35, RAB23, POR, MSX2, TWIST1, TGFBR1, TGFBR2, SKI, GLI3, WDR19, EFNB1, IFT43, IL11RA, IFT122, FREM1, CDC45 , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
15 %
Craniosynostosis NGS panel.

By Connective Tissue Gene Tests in United States.

RECQL4, FGFR3, FGFR2, FGFR1, WDR35, RAB23, POR, MSX2, TWIST1, TGFBR1, TGFBR2, SKI, GLI3, WDR19, EFNB1, IFT43, IL11RA, IFT122, FREM1, CDC45 , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
15 %
qGenEx Craniofacial Anomalies.

By Quantitative Genomic Medicine Laboratories, SL in Spain.

RECQL4, EYA1, COL2A1, PAX6, FOXC1, PITX2, OTX2, SHH, DHODH, BCOR, CTSK, FGFR3, CHD7, GJB6, IKBKG, PORCN, RUNX2, FGFR2, RAD21, SMC3 , (...)

View the complete list with 116 more genes
Specificity
1 %
Genes
15 %
CDC45.

By Fulgent Genetics Fulgent Genetics in United States.

CDC45
Specificity
100 %
Genes
15 %
Craniosynostosis Panel.

By Blueprint Genetics in Finland.

RECQL4, ALPL, FGFR3, FGFR2, FGFR1, PAX3, EDNRB, SOX10, WDR35, RAB23, POR, MSX2, TWIST1, TGFBR1, TGFBR2, SKI, GLI3, IFT140, WDR19, ALX4 , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
15 %
Meier-Gorlin Syndrome 1.

By Molecular Diagnostics Lab Nemours Alfred I. duPont Hospital for Children in United States.

ORC1
Specificity
100 %
Genes
15 %
ORC1. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

ORC1
Specificity
100 %
Genes
15 %
Meier-Gorlin syndrome 1 (sequence analysis of ORC1 gene).

By CGC Genetics in Portugal.

ORC1
Specificity
100 %
Genes
15 %
Meier-Gorlin Syndrome via the ORC1 Gene.

By PreventionGenetics PreventionGenetics in United States.

ORC1
Specificity
100 %
Genes
15 %
Meier-Gorlin syndrome 1.

By Centogene AG - the Rare Disease Company in Germany.

ORC1
Specificity
100 %
Genes
15 %
AllNeuro panel.

By Centogene AG - the Rare Disease Company in Germany.

F2, F5, FMR1, HTT, HFE, MTHFR, TTR, UBE3A, VHL, PTEN, AARS2, ABHD12, ACACA, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1 , (...)

View the complete list with 1185 more genes
Specificity
1 %
Genes
15 %
Intellectual Disability NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

BRCA2, F5, FMR1, MTHFR, TTR, UBE3A, PTEN, MCCC1, MCCC2, AGL, ACAT1, GYS2, ARG1, ATP7A, AUH, BCS1L, ADSL, FBLN5, LRP5, COL1A2 , (...)

View the complete list with 372 more genes
Specificity
1 %
Genes
15 %
ORC1.

By Fulgent Genetics Fulgent Genetics in United States.

ORC1
Specificity
100 %
Genes
15 %
Meier-Gorlin syndrome 1.

By Bioarray in Spain.

ORC1
Specificity
100 %
Genes
15 %
ORC1 Gene Sequencing and Deletion/Duplication Analysis.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

ORC1
Specificity
100 %
Genes
15 %
Meier-Gorlin Syndrome Type 1 , Sequencing ORC1 Gene.

By Reference Laboratory Genetics in Spain.

ORC1
Specificity
100 %
Genes
15 %
Meier-Gorlin Syndrome 4.

By Molecular Diagnostics Lab Nemours Alfred I. duPont Hospital for Children in United States.

CDT1
Specificity
100 %
Genes
15 %
Meier-Gorlin syndrome 4 (sequence analysis of CDT1 gene).

By CGC Genetics in Portugal.

CDT1
Specificity
100 %
Genes
15 %
Meier-Gorlin Syndrome via the CDT1 Gene.

By PreventionGenetics PreventionGenetics in United States.

CDT1
Specificity
100 %
Genes
15 %
Meier-Gorlin syndrome 4.

By Centogene AG - the Rare Disease Company in Germany.

CDT1
Specificity
100 %
Genes
15 %
CDT1.

By Fulgent Genetics Fulgent Genetics in United States.

CDT1
Specificity
100 %
Genes
15 %
CDT1 Gene Sequencing and Deletion/Duplication Analysis.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

CDT1
Specificity
100 %
Genes
15 %
Meier-Gorlin Syndrome 5.

By Molecular Diagnostics Lab Nemours Alfred I. duPont Hospital for Children in United States.

CDC6
Specificity
100 %
Genes
15 %
Meier-Gorlin Syndrome via the CDC6 Gene.

By PreventionGenetics PreventionGenetics in United States.

CDC6
Specificity
100 %
Genes
15 %
CDC6.

By Fulgent Genetics Fulgent Genetics in United States.

CDC6
Specificity
100 %
Genes
15 %
CDC6 Gene Sequencing and Deletion/Duplication Analysis.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

CDC6
Specificity
100 %
Genes
15 %
Tempus xO assay.

By Tempus Labs, Inc. in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, ABCB11, ABCB4, FKBP10, FOXL2, HNF1A, PPARG , (...)

View the complete list with 1693 more genes
Specificity
1 %
Genes
15 %
Meier-Gorlin Syndrome 3.

By Molecular Diagnostics Lab Nemours Alfred I. duPont Hospital for Children in United States.

ORC6
Specificity
100 %
Genes
15 %
Meier-Gorlin Syndrome via ORC6 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

ORC6
Specificity
100 %
Genes
15 %
Single gene testing ORC6.

By CeGaT GmbH in Germany.

ORC6
Specificity
100 %
Genes
15 %
ORC6.

By Fulgent Genetics Fulgent Genetics in United States.

ORC6
Specificity
100 %
Genes
15 %
ORC6 Gene Sequencing and Deletion/Duplication Analysis.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

ORC6
Specificity
100 %
Genes
15 %

Alternate names

Meier-gorlin Syndrome 1; Mgors1 Is also known as ear, patella, short stature syndrome;eps, microtia, absent patellae, micrognathia syndrome, meier-gorlin syndrome;meier-gorlin syndrome.


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