Spondyloepimetaphyseal Dysplasia With Joint Laxity
Description
Spondyloepimetaphyseal dysplasia with joint laxity type 1 (SEMDJL1) is characterized by vertebral abnormalities and ligamentous laxity that result in spinal misalignment and progressive severe kyphoscoliosis, thoracic asymmetry, and respiratory compromise resulting in early death. Nonaxial skeletal involvement includes elbow deformities with radial head dislocation, dislocated hips, clubfeet, and tapered fingers with spatulate distal phalanges. Many affected children have an oval face, flat midface, prominent eyes with blue sclerae, and a long philtrum. Palatal abnormalities and congenital heart disease are also observed (summary by Smith et al., 1999). Patients with a similar phenotype and fractures have been described (Malfait et al., 2013).
Genes related to Spondyloepimetaphyseal Dysplasia With Joint Laxity
- B3GALT6
Clinical Features
Top most frequent phenotypes and symptoms related to Spondyloepimetaphyseal Dysplasia With Joint Laxity
- Intellectual disability
- Global developmental delay
- Short stature
- Generalized hypotonia
- Scoliosis
- Micrognathia
- Muscular hypotonia
- Cleft palate
- Flexion contracture
- High palate
And another 87 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
Spondyloepimetaphyseal Dysplasia With Joint Laxity Is also known as spondyloepimetaphyseal dysplasia with joint laxity, beighton type, semdjl1, semdjl, semd-jl, spondyloepimetaphyseal dysplasia with joint laxity type 1.
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.Spondyloepimetaphyseal Dysplasia With Joint Laxity Recommended genes panels
| Panel Name, Specifity and genes Tested/covered |
|---|
 Connective Tissue Disorders Panel.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).
SKI, TGFB2, TGFB3, TGFBR1, TGFBR2, MED12, TNXB, ACTA2, SLC2A10, CBS, B3GALT6, FKBP14, SLC39A13, ADAMTS2, COL1A2, COL3A1, COL5A1, COL5A2, ZNF469, CHST14 , (...)
View the complete list with 10 more genes
Specificity
4 %
Genes
100 % |
|
Familial Aneurysm and Aortopathy.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).
SKI, TGFB2, TGFB3, TGFBR1, TGFBR2, MED12, TNXB, ACTA2, SLC2A10, CBS, B3GALT6, FKBP14, SLC39A13, ADAMTS2, COL1A2, COL3A1, COL5A1, COL5A2, ZNF469, CHST14 , (...)
View the complete list with 10 more genes
Specificity
4 %
Genes
100 % |
 B3GALT6.
By Institute for Human Genetics University Clinic Freiburg (Germany).
B3GALT6
Specificity
100 %
Genes
100 % |
|
Connective Tissue Disorders Panel.
By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center (United States).
BGN, SKI, TGFB2, TGFB3, TGFBR1, TGFBR2, MED12, TNXB, C1R, C1S, ACTA2, ADAMTS10, SLC2A10, ADAMTSL2, CBS, TAB2, B3GALT6, ATP6V0A2, FKBP14, RIN2 , (...)
View the complete list with 45 more genes
Specificity
2 %
Genes
100 % |
|
Ehlers-Danlos Syndrome Panel.
By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center (United States).
TNXB, C1R, C1S, B3GALT6, FKBP14, SLC39A13, DSE, ADAMTS2, COL1A2, COL3A1, COL5A1, COL5A2, CHST14, FLNA, ATP7A, PLOD1, B4GALT7
Specificity
6 %
Genes
100 % |
 Ehlers-Danlos syndrome, progeroid type (sequence analysis of B3GALT6 gene).
By CGC Genetics (Portugal).
B3GALT6
Specificity
100 %
Genes
100 % |
|
Ehlers-Danlos syndrome, progeroid type (sequence analysis of B3GALT6 gene).
By CGC Genetics (Portugal).
B3GALT6
Specificity
100 %
Genes
100 % |
|
Ehlers-Danlos Syndromes Sequencing Panel with CNV Detection.
By PreventionGenetics PreventionGenetics (United States).
SPARC, TGFBR1, TGFBR2, TNFRSF1A, TNXB, C1R, C1S, LZTS1, ADAMTSL2, B3GALT6, ATP6V0A2, FKBP14, RIN2, CHST3, SLC39A13, DSE, ADAMTS2, COL12A1, COL1A2, COL3A1 , (...)
View the complete list with 24 more genes
Specificity
3 %
Genes
100 % |
You can get up to 54 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
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