Spondyloepimetaphyseal Dysplasia, X-linked; Semdx

Description

X-linked spondyloepimetaphyseal dysplasia is a rare, genetic primary bone dysplasia disorder characterized by disproportionate short stature with mesomelic short limbs, leg bowing, lumbar lordosis, brachydactyly, joint laxity and a waddling gait. Radiographs show platyspondyly with central protrusion of anterior vertebral bodies, kyphotic angulation and very short long bones with dysplastic epiphyses and flarred, irregular, cupped metaphyses.

Clinical Features

Top most frequent phenotypes and symptoms related to Spondyloepimetaphyseal Dysplasia, X-linked; Semdx

  • Growth delay
  • Brachydactyly
  • Kyphosis
  • Severe short stature
  • Arthritis
  • Hyperlordosis
  • Pectus carinatum
  • Platyspondyly
  • Short palm
  • Short foot
And another 37 symptoms. If you need more information about this disease we can help you.
Click here to know more about Mendelian.

Incidence and onset information

Not enough data available about incidence and published cases.


Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Spondyloepimetaphyseal Dysplasia, X-linked; Semdx Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Familial Aneurysm Panel.

By Collagen Diagnostic Laboratory University of Washington in United States.

COL3A1, FBN1, PLOD3, CBS, SMAD4, TGFB2, SMAD3, TGFBR1, TGFBR2, SKI, MYLK, FBN2, ACTA2, SLC2A10, MYH11, FOXE3, TGFB3, PRKG1, MFAP5, MAT2A , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
100 %
BGN.

By Institute for Human Genetics University Clinic Freiburg in Germany.

BGN
Specificity
100 %
Genes
100 %
Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders Comprehensive panel.

By Connective Tissue Gene Tests in United States.

COL3A1, FBN1, CBS, COL5A1, COL5A2, SMAD4, FLNA, MED12, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2, SKI, MYLK, FBN2, ACTA2, SLC2A10, MYH11, FOXE3 , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
100 %
Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

COL3A1, FBN1, CBS, COL5A1, COL5A2, SMAD4, FLNA, MED12, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2, SKI, MYLK, FBN2, ACTA2, SLC2A10, MYH11, FOXE3 , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
100 %
Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders NGS panel.

By Connective Tissue Gene Tests in United States.

COL3A1, FBN1, CBS, COL5A1, COL5A2, SMAD4, FLNA, MED12, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2, SKI, MYLK, FBN2, ACTA2, SLC2A10, MYH11, FOXE3 , (...)

View the complete list with 7 more genes
Specificity
4 %
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 %
Familial thoracic aortic aneurysm panel.

By Centogene AG - the Rare Disease Company in Germany.

CBS, MYLK, ACTA2, MYH11, MFAP5, MAT2A, LOX, BGN
Specificity
13 %
Genes
100 %
BGN.

By Fulgent Genetics Fulgent Genetics in United States.

BGN
Specificity
100 %
Genes
100 %
Spondylometaphyseal / Spondyloepi-(meta)-physeal Dysplasia Panel.

By Blueprint Genetics in Finland.

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

View the complete list with 8 more genes
Specificity
4 %
Genes
100 %
Marfan Syndrome Panel.

By Blueprint Genetics in Finland.

COL2A1, COL1A1, COL1A2, COL3A1, FBN1, CBS, COL5A1, COL5A2, PLOD1, COL11A1, COL11A2, MED12, UPF3B, TGFB2, SMAD3, TGFBR1, TGFBR2, SKI, FBN2, SLC2A10 , (...)

View the complete list with 10 more genes
Specificity
4 %
Genes
100 %
Aorta Panel.

By Blueprint Genetics in Finland.

FBLN5, COL2A1, COL1A1, COL1A2, COL3A1, ELN, FBN1, ALDH18A1, SLC39A13, CBS, COL5A1, COL5A2, PLOD1, ADAMTS2, FLNA, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2 , (...)

View the complete list with 21 more genes
Specificity
3 %
Genes
100 %
Ehlers-Danlos Syndrome Panel.

By Blueprint Genetics in Finland.

ATP7A, B4GALT7, FBLN5, COL2A1, COL1A1, COL1A2, COL3A1, ELN, PYCR1, ATP6V0A2, FBN1, ALDH18A1, SLC39A13, CBS, COL5A1, COL5A2, PLOD1, ADAMTS2, FLNA, COL11A1 , (...)

View the complete list with 12 more genes
Specificity
4 %
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 %

Alternate names

Spondyloepimetaphyseal Dysplasia, X-linked; Semdx Is also known as semd, x-linked;.


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like THROMBOCYTOPENIA 2; THC2