Desbuquois Dysplasia 2; Dbqd2

Description

Desbuquois dysplasia (DBQD), which belongs to the multiple dislocation group of disorders, is characterized by dislocations of large joints, severe pre- and postnatal growth retardation, joint laxity, and flat face with prominent eyes. Radiologic features include short long bones with an exaggerated trochanter that gives a 'monkey wrench' appearance to the proximal femur, and advanced carpal and tarsal ossification (summary by Bui et al., 2014).For a discussion of genetic heterogeneity of Desbuquois dysplasia, see DBQD1 (OMIM ).

Clinical Features

Top most frequent phenotypes and symptoms related to Desbuquois Dysplasia 2; Dbqd2

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Growth delay
  • Cleft palate
  • Abnormal facial shape
  • Depressed nasal bridge
  • Macrocephaly
  • Long philtrum
  • Pectus excavatum
And another 35 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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Desbuquois Dysplasia 2; Dbqd2 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Desbuquois syndrome (sequence analysis of XYLT1 gene).

By CGC Genetics in Portugal.

XYLT1
Specificity
100 %
Genes
100 %
Desbuquois syndrome (sequence analysis of XYLT1 gene).

By CGC Genetics in Portugal.

XYLT1
Specificity
100 %
Genes
100 %
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
1 %
Genes
100 %
Desbuquois dysplasia and related disorders Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

SLC26A2, CANT1, B3GAT3, B3GALT6, CHST3, IMPAD1, FLNB, XYLT1, KIF22, GZF1, CSGALNACT1
Specificity
10 %
Genes
100 %
Desbuquois dysplasia and related disorders NGS panel.

By Connective Tissue Gene Tests in United States.

SLC26A2, CANT1, B3GAT3, B3GALT6, CHST3, IMPAD1, FLNB, XYLT1, KIF22, GZF1, CSGALNACT1
Specificity
10 %
Genes
100 %
Desbuquois dysplasia and related disorders Comprehensive panel.

By Connective Tissue Gene Tests in United States.

SLC26A2, CANT1, B3GAT3, B3GALT6, CHST3, IMPAD1, FLNB, XYLT1, KIF22, GZF1, CSGALNACT1
Specificity
10 %
Genes
100 %
Desbuquois dysplasia core Comprehensive panel.

By Connective Tissue Gene Tests in United States.

CANT1, IMPAD1, XYLT1, CSGALNACT1
Specificity
25 %
Genes
100 %
Desbuquois dysplasia core Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

CANT1, IMPAD1, XYLT1, CSGALNACT1
Specificity
25 %
Genes
100 %
Desbuquois dysplasia core NGS panel.

By Connective Tissue Gene Tests in United States.

CANT1, IMPAD1, XYLT1, CSGALNACT1
Specificity
25 %
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 %
Desbuquois dysplasia type 2.

By Centogene AG - the Rare Disease Company in Germany.

XYLT1
Specificity
100 %
Genes
100 %
Spondylometaphyseal dysplasia and Spondylo-epi-(meta)-physeal dysplasia Panel.

By CeGaT GmbH in Germany.

COL2A1, SLC39A13, RMRP, TRPV4, HSPG2, COL11A1, COL11A2, CANT1, DYM, B3GALT6, EIF2AK3, SMARCAL1, WISP3, CHST3, IMPAD1, NKX3-2, ACP5, RAB33B, TRAPPC2, MATN3 , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
100 %
Single gene testing XYLT1.

By CeGaT GmbH in Germany.

XYLT1
Specificity
100 %
Genes
100 %
Recessive EDS panel.

By Connective Tissue Laboratory Ghent University Hospital in Belgium.

B4GALT7, SLC39A13, PLOD1, ADAMTS2, FKBP14, CHST14, B3GAT3, B3GALT6, DSE, XYLT1
Specificity
10 %
Genes
100 %
XYLT1 mutational analysis.

By Connective Tissue Laboratory Ghent University Hospital in Belgium.

XYLT1
Specificity
100 %
Genes
100 %
Congenital disorder of O-linked glycosylation (CDG).

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

B4GALT7, KRT5, FKTN, POMGNT1, FKRP, FGF23, POMT2, POMT1, ISPD, B4GAT1, POMGNT2, LARGE1, COL4A1, CHSY1, CHST14, B3GAT3, B3GALT6, B3GLCT, EXT2, EXT1 , (...)

View the complete list with 9 more genes
Specificity
4 %
Genes
100 %
XYLT1.

By Fulgent Genetics Fulgent Genetics in United States.

XYLT1
Specificity
100 %
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 %
Pseudoxanthoma Elasticum , Panel Massive Sequencing (NGS) 6 Genes.

By Reference Laboratory Genetics in Spain.

ABCC6, XYLT2, VEGFA, GGCX, ENPP1, XYLT1
Specificity
17 %
Genes
100 %


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