Spondylometaphyseal Dysplasia, Megarbane-dagher-melki Type; Smdmdm
Genes related to Spondylometaphyseal Dysplasia, Megarbane-dagher-melki Type; Smdmdm
- PAM16
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
Incidence and onset information
— Not enough data available about incidence and published cases.

Accelerate your rare disease diagnosis with us
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;.
If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like TRANSALDOLASE DEFICIENCY HEMATURIA, BENIGN FAMILIAL; BFH EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 47; EIEE47 EPILEPSY, HOT WATER, 1; HWE1 GLYCOGEN STORAGE DISEASE Ia; GSD1A OSTEOPETROSIS AND INFANTILE NEUROAXONAL DYSTROPHY PITT-HOPKINS-LIKE SYNDROME 2; PTHSL2