Ehlers-danlos Syndrome, Spondylocheirodysplastic Type
Description
Ehlers-Danlos syndrome, spondylocheirodysplastic type is a subtype of Ehlers-Danlos syndrome characterized by skeletal dysplasia comprising platyspondyly with moderate short stature, osteopenia and widened metaphyses, in addition to hyperextensible, thin, easily bruised skin, hypermobility of small joints with tendency to contractures, prominent eyes with bluish sclerae, wrinkled palms, atrophy of the thenar muscle and tapering fingers.
Genes related to Ehlers-danlos Syndrome, Spondylocheirodysplastic Type
- SLC39A13
Clinical Features
Top most frequent phenotypes and symptoms related to Ehlers-danlos Syndrome, Spondylocheirodysplastic Type
- Short stature
- Growth delay
- Failure to thrive
- Flexion contracture
- High palate
- Downslanted palpebral fissures
- Proptosis
- Osteopenia
- Skeletal dysplasia
- Pes planus
And another 29 symptoms. If you need more information about this disease we can help you.
Incidence and onset information
— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)— No data available about the known clinical features onset.
Alternative names
Ehlers-danlos Syndrome, Spondylocheirodysplastic Type Is also known as eds, spondylocheirodysplastic type, spondylocheirodysplasia, ehlers-danlos syndrome-like, scd-eds.
Researches and researchers
Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.Ehlers-danlos Syndrome, Spondylocheirodysplastic Type Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
---|
MitoMet®Plus aCGH Analysis.
By Baylor Miraca Genetics Laboratories (United States).
RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...)
View the complete list with 612 more genes
Specificity
1 %
Genes
100 % |
SLC39A13 Sequence Analysis (Prenatal Diagnosis).
By Baylor Miraca Genetics Laboratories (United States).
SLC39A13
Specificity
100 %
Genes
100 % |
SLC39A13 Sequence Analysis.
By Baylor Miraca Genetics Laboratories (United States).
SLC39A13
Specificity
100 %
Genes
100 % |
SLC39A13 Deletion/Duplication Analysis.
By Baylor Miraca Genetics Laboratories (United States).
SLC39A13
Specificity
100 %
Genes
100 % |
SLC39A13 Comprehensive - Sequence & Deletion/Duplication Analysis.
By Baylor Miraca Genetics Laboratories (United States).
SLC39A13
Specificity
100 %
Genes
100 % |
Low Bone Mass Panel (MitomeNGS).
By Baylor Miraca Genetics Laboratories (United States).
SLC34A1, SLC9A3R1, TNFRSF11A, TNFRSF11B, IFITM5, SP7, FKBP10, P3H1, SLC39A13, COL1A2, COL3A1, COL5A1, COL5A2, CRTAP, FBN1, ALPL, SERPINF1, PLOD2, PLOD3, PPIB , (...)
View the complete list with 1 more genes
Specificity
5 %
Genes
100 % |
NGS Connective Tissue Disorders Panel.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).
SKI, TGFB2, TGFBR1, TGFBR2, TNXB, ACTA2, SLC2A10, CBS, ACVR1, ATP6V0A2, FKBP14, SLC39A13, ADAMTS2, COL11A1, COL1A2, COL3A1, COL5A1, COL5A2, ZNF469, CHST14 , (...)
View the complete list with 13 more genes
Specificity
4 %
Genes
100 % |
Congenital Contractures Panel.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).
SKI, SLC18A3, TNNI2, TNNT3, TPM2, TPM3, UBA1, ZMPSTE24, ACTA1, ADGRG6, SLC5A7, KLHL41, FKBP10, NEK9, NALCN, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE , (...)
View the complete list with 37 more genes
Specificity
2 %
Genes
100 % |
You can get up to 55 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
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