Epiphyseal Dysplasia, Microcephaly, And Nystagmus

Description

Lowry-Wood syndrome is characterized by the association of epiphyseal dysplasia, short stature, microcephaly and, in the first reported cases, congenital nystagmus. So far, less than 10 cases have been described in the literature. Variable degrees of intellectual deficit have also been reported. Other occasional features include retinitis pigmentosa (see this term) and coxa vara. Transmission appears to be autosomal recessive.

Clinical Features

Top most frequent phenotypes and symptoms related to Epiphyseal Dysplasia, Microcephaly, And Nystagmus

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Nystagmus
  • Visual impairment
  • Brachydactyly
  • Intellectual disability, mild
  • Delayed skeletal maturation
  • Rod-cone dystrophy
  • Arthralgia
And another 26 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.


Mendelian

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Epiphyseal Dysplasia, Microcephaly, And Nystagmus Recommended genes panels

Panel Name, Specifity and genes Tested/covered
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
4 %
Genes
100 %
Microcephalic Osteodysplastic Primordial Dwarfism, Type I.

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

RNU4ATAC
Specificity
100 %
Genes
100 %
RNU4ATAC. Complete sequencing.

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

RNU4ATAC
Specificity
100 %
Genes
100 %
Microcephalic osteodysplastic primordial dwarfism type I (sequence analysis of RNU4ATAC gene).

By CGC Genetics in Portugal.

RNU4ATAC
Specificity
100 %
Genes
100 %
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
5 %
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
5 %
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
5 %
Genes
100 %
Spondylo-Epi-Metaphyseal dysplasias Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

COL2A1, FGFR3, COL10A1, IDUA, RMRP, RUNX2, SBDS, SLC26A2, TRPV4, HSPG2, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, CANT1, PTH1R, COMP, DYM, CFAP410 , (...)

View the complete list with 34 more genes
Specificity
2 %
Genes
100 %
Spondylo-Epi-Metaphyseal dysplasias Comprehensive panel.

By Connective Tissue Gene Tests in United States.

COL2A1, FGFR3, COL10A1, IDUA, RMRP, RUNX2, SBDS, SLC26A2, TRPV4, HSPG2, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, CANT1, PTH1R, COMP, DYM, CFAP410 , (...)

View the complete list with 34 more genes
Specificity
2 %
Genes
100 %
Spondylo-Epi-Metaphyseal dysplasias NGS panel.

By Connective Tissue Gene Tests in United States.

COL2A1, FGFR3, COL10A1, IDUA, RMRP, RUNX2, SBDS, SLC26A2, TRPV4, HSPG2, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, CANT1, PTH1R, COMP, DYM, CFAP410 , (...)

View the complete list with 34 more genes
Specificity
2 %
Genes
100 %
Microcephalic osteodysplastic primordial dwarfism Type 1.

By Institute of Human Genetics Cologne University in Germany.

RNU4ATAC
Specificity
100 %
Genes
100 %
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
100 %
Microcephalic osteodysplastic primordial dwarfism type 1.

By Centogene AG - the Rare Disease Company in Germany.

RNU4ATAC
Specificity
100 %
Genes
100 %
Potentially lethal skeletal disorders Panel.

By CeGaT GmbH in Germany.

ALPL, COL2A1, COL1A1, COL1A2, P3H1, CRTAP, AGPS, FAM20C, PPIB, FGFR3, DHCR7, FGFR2, PEX7, SLC26A2, TRPV4, FLNA, OFD1, LBR, COL11A1, COL11A2 , (...)

View the complete list with 24 more genes
Specificity
3 %
Genes
100 %
Microcephalic Osteodysplastic Primordial Dwarfism Type 1.

By Clinical Genomics Maastricht University Medical Centre in Netherlands.

RNU4ATAC
Specificity
100 %
Genes
100 %
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
9 %
Genes
100 %
RNU4ATAC.

By Fulgent Genetics Fulgent Genetics in United States.

RNU4ATAC
Specificity
100 %
Genes
100 %
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
2 %
Genes
100 %
Primary Immunodeficiency Panel.

By Blueprint Genetics in Finland.

PMS2, RECQL4, STAT1, SLC37A4, CASP8, CLCN7, HAX1, AP3B1, UNG, TAP1, TCN2, AK2, SLC35C1, CYBA, STAT3, ADA, MOGS, IL2RG, PNP, AIRE , (...)

View the complete list with 255 more genes
Specificity
1 %
Genes
100 %
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
5 %
Genes
100 %
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
1 %
Genes
100 %
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
1 %
Genes
100 %
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
1 %
Genes
100 %
Microcephalic osteodysplastic primordial dwarfism type 1.

By Bioarray in Spain.

RNU4ATAC
Specificity
100 %
Genes
100 %
RNU4ATAC Gene Sequencing and Deletion/Duplication Analysis.

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

RNU4ATAC
Specificity
100 %
Genes
100 %
Microcephalic Osteodysplastic Primordial Dwarfism NGS and Deletion/Duplication Panel.

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

PCNT, RNU4ATAC
Specificity
50 %
Genes
100 %
Microcephalic Osteodysplastic Primordial Dwarfism (RNU4ATAC) Targeted Testing.

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

RNU4ATAC
Specificity
100 %
Genes
100 %
MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM TYPES I AND III.

By Laboratorio de Genetica Clinica SL in Spain.

RNU4ATAC
Specificity
100 %
Genes
100 %
Microcephalic Osteodysplastic Primordial Dwarfism Type 1, Sequencing RNU4ATAC Gene.

By Reference Laboratory Genetics in Spain.

RNU4ATAC
Specificity
100 %
Genes
100 %
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
9 %
Genes
100 %

Alternate names

Epiphyseal Dysplasia, Microcephaly, And Nystagmus Is also known as lowry-wood syndrome;lws;epiphyseal dysplasia-microcephaly-nystagmus syndrome.


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