Spondylometaphyseal Dysplasia, Megarbane-dagher-melki Type; Smdmdm

Clinical Features

Top most frequent phenotypes and symptoms related to Spondylometaphyseal Dysplasia, Megarbane-dagher-melki Type; Smdmdm

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Growth delay
  • Low-set ears
  • Depressed nasal bridge
  • Short neck
  • Frontal bossing
  • Anteverted nares
  • Respiratory insufficiency
And another 31 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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Spondylometaphyseal Dysplasia, Megarbane-dagher-melki Type; Smdmdm 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 %
PAM16.

By Fulgent Genetics Fulgent Genetics in United States.

PAM16
Specificity
100 %
Genes
100 %
Combined Skeletal Dysplasia/Osteogenesis Imperfecta Panel.

By Insight Medical Genetics in United States.

ALPL, FKBP10, IFITM5, COL2A1, COL1A1, COL1A2, SERPINF1, SP7, P3H1, CRTAP, PLOD2, AGPS, PPIB, FGFR3, FGFR2, PEX7, SLC26A2, FGFR1, COL11A1, TWIST1 , (...)

View the complete list with 13 more genes
Specificity
4 %
Genes
100 %

Alternate names

Spondylometaphyseal Dysplasia, Megarbane-dagher-melki Type; Smdmdm Is also known as chondrodysplasia, megarbane-dagher-melki type;.



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