Spondyloepimetaphyseal Dysplasia, Faden-alkuraya Type; Semdfa

Clinical Features

Top most frequent phenotypes and symptoms related to Spondyloepimetaphyseal Dysplasia, Faden-alkuraya Type; Semdfa

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Microcephaly
  • Scoliosis
  • Hypertelorism
  • Strabismus
  • Failure to thrive
  • Motor delay
  • Ptosis
And another 40 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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Spondyloepimetaphyseal Dysplasia, Faden-alkuraya Type; Semdfa Recommended genes panels

Panel Name, Specifity and genes Tested/covered
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 %
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
100 %
RSPRY1.

By Fulgent Genetics Fulgent Genetics in United States.

RSPRY1
Specificity
100 %
Genes
100 %

Alternate names

Spondyloepimetaphyseal Dysplasia, Faden-alkuraya Type; Semdfa Is also known as spondyloepimetaphyseal dysplasia, progressive, with short stature, facial dysmorphism, short fourth metatarsals, and mental retardation, with or without craniosynostosis;.


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