Ehlers-danlos Syndrome Type 7b
Description
Arthrochalasia-type EDS is distinguished from other types of EDS by the frequency of congenital hip dislocation and extreme joint laxity with recurrent joint subluxations and minimal skin involvement (Byers et al., 1997; Giunta et al., 2008).For a discussion of genetic heterogeneity of arthrochalasia-type EDS, see {130060}.
Clinical Features
Top most frequent phenotypes and symptoms related to Ehlers-danlos Syndrome Type 7b
- Short stature
- Generalized hypotonia
- Scoliosis
- Micrognathia
- Muscle weakness
- Depressed nasal bridge
- Talipes equinovarus
- Kyphosis
- Hernia
- Osteoporosis
And another 25 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 Type 7b Is also known as eds viib, ehlers-danlos syndrome, type viib, autosomal dominant, eds7b.
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 Type 7b Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
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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 % |
COL1A2 Comprehensive - Sequence & Deletion/Duplication Analysis.
By Baylor Miraca Genetics Laboratories (United States).
COL1A2
Specificity
100 %
Genes
100 % |
COL1A2 Deletion/Duplication Analysis.
By Baylor Miraca Genetics Laboratories (United States).
COL1A2
Specificity
100 %
Genes
100 % |
COL1A2 Sequence Analysis (Prenatal Diagnosis).
By Baylor Miraca Genetics Laboratories (United States).
COL1A2
Specificity
100 %
Genes
100 % |
COL1A1/2 Related Disorders Panel (MitomeNGS).
By Baylor Miraca Genetics Laboratories (United States).
COL1A2
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 % |
PreSeek Non-invasive Prenatal Gene Sequencing Screen.
By Baylor Miraca Genetics Laboratories (United States).
RIT1, BRAF, SMC1A, SOS1, SOS2, CDKL5, SYNGAP1, TSC1, TSC2, HDAC8, NSD1, CBL, SHOC2, CHD7, COL1A2, SMC3, NIPBL, FGFR2, FGFR3, HRAS , (...)
View the complete list with 9 more genes
Specificity
4 %
Genes
100 % |
Osteogenesis Imperfecta Evaluation.
By Athena Diagnostics Inc (United States).
COL1A2
Specificity
100 %
Genes
100 % |
You can get up to 177 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
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