Achondrogenesis, Type Ib; Acg1b
Description
The term achondrogenesis has been used to characterize the most severe forms of chondrodysplasia in humans, invariably lethal before or shortly after birth. Achondrogenesis type I is a severe chondrodystrophy characterized radiographically by deficient ossification in the lumbar vertebrae and absent ossification in the sacral, pubic and ischial bones and clinically by stillbirth or early death (Maroteaux and Lamy, 1968; Langer et al., 1969). In addition to severe micromelia, there is a disproportionately large cranium due to marked edema of soft tissues.
Clinical Features
Top most frequent phenotypes and symptoms related to Achondrogenesis, Type Ib; Acg1b
- Micrognathia
- Macrocephaly
- Frontal bossing
- Anteverted nares
- Respiratory insufficiency
- Short neck
- Edema
- Short nose
- Long philtrum
- Malar flattening
And another 22 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
Achondrogenesis, Type Ib; Acg1b Is also known as achondrogenesis, fraccaro type.
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.Achondrogenesis, Type Ib; Acg1b Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
---|
GeneAware Complete Panel Version 2 (Female).
By Baylor Miraca Genetics Laboratories (United States).
RMRP, BCS1L, SACS, BLM, SGCA, SGCB, SGCG, SGSH, SLC12A6, SLC17A5, SLC22A5, SLC25A13, SLC25A15, SLC26A2, SLC35A3, SLC7A7, SMN1, SMPD1, BTD, BTK , (...)
View the complete list with 139 more genes
Specificity
1 %
Genes
100 % |
GeneAware Complete Panel Version 2 (Male).
By Baylor Miraca Genetics Laboratories (United States).
RMRP, BCS1L, SACS, BLM, SGCA, SGCB, SGCG, SGSH, SLC12A6, SLC17A5, SLC22A5, SLC25A13, SLC25A15, SLC26A2, SLC35A3, SLC7A7, SMN1, SMPD1, BTD, TGM1 , (...)
View the complete list with 129 more genes
Specificity
1 %
Genes
100 % |
NGS Skeletal Dysplasia Panel.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).
SLC26A2, SOX9, TRPV4, COL1A2, COMP, FGFR3, FLNA, HSPG2
Specificity
13 %
Genes
100 % |
DTDST-related dysplasias: Sulfate Transporter-Related Osteochondrodysplasia.
By Centre of Molecular Diseases (CMM) CHUV (Switzerland).
SLC26A2
Specificity
100 %
Genes
100 % |
Skeletal Dysplasia Panel, Sequencing and Deletion/Duplication.
By ARUP Laboratories, Molecular Genetics and Genomics (United States).
RUNX2, SLC26A2, SOX9, TRIP11, SERPINH1, TRPV4, FKBP10, WDR19, P3H1, EVC2, SLC35D1, COL1A2, COMP, CRTAP, TTC21B, DLL3, WDR35, IFT80, DYNC2H1, EBP , (...)
View the complete list with 17 more genes
Specificity
3 %
Genes
100 % |
Skeletal Dysplasia Panel, Sequencing and Deletion/Duplication, Fetal.
By ARUP Laboratories, Molecular Genetics and Genomics (United States).
RUNX2, SLC26A2, SOX9, TRIP11, SERPINH1, TRPV4, FKBP10, WDR19, P3H1, EVC2, SLC35D1, COL1A2, COMP, CRTAP, TTC21B, DLL3, WDR35, IFT80, DYNC2H1, EBP , (...)
View the complete list with 17 more genes
Specificity
3 %
Genes
100 % |
SLC26A2. Detection of the mutations p.Arg279Trp, c.-26 2T>C and p.Cys653Ser by sequencing.
By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).
SLC26A2
Specificity
100 %
Genes
100 % |
SLC26A2. Detection of the mutations IVS1 2T>C, p.Arg178X, p.Arg279Trp, p.Val340del and p.Cys653Ser by sequencing.
By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).
SLC26A2
Specificity
100 %
Genes
100 % |
You can get up to 104 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
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