Achondrogenesis, Type Ia; Acg1a
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 Ia; Acg1a
- Micrognathia
- Cleft palate
- Depressed nasal bridge
- Macrocephaly
- Frontal bossing
- Abnormality of the skeletal system
- Talipes equinovarus
- Anteverted nares
- Short neck
- Edema
And another 50 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 Ia; Acg1a Is also known as achondrogenesis, houston-harris 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 Ia; Acg1a Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
---|
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
6 %
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
6 %
Genes
100 % |
FGFR2, COMP, COL11A1, COL11A2, EVC, TRIP11, EVC2. NextGeneDx.Complete sequencing by NGS.
By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).
TRIP11, EVC2, COL11A1, COL11A2, COMP, EVC, FGFR2
Specificity
15 %
Genes
50 % |
Achondrogenesis type IA (sequence analysis of TRIP11 gene).
By CGC Genetics (Portugal).
TRIP11
Specificity
100 %
Genes
50 % |
Skeletal dysplasia (NGS panel for 31 genes).
By CGC Genetics (Portugal).
RMRP, SLC26A2, SOX9, TRIP11, NSDHL, TRPV4, P3H1, SBDS, SLC35D1, COL10A1, COL11A1, COL11A2, COL1A2, CRTAP, DDR2, EBP, FGFR3, FLNB, ALPL, HSPG2 , (...)
View the complete list with 9 more genes
Specificity
7 %
Genes
100 % |
Achondrogenesis Type 1A via TRIP11 Gene Sequencing with CNV Detection.
By PreventionGenetics PreventionGenetics (United States).
TRIP11
Specificity
100 %
Genes
50 % |
Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection.
By PreventionGenetics PreventionGenetics (United States).
RMRP, ROR2, RUNX2, SALL1, BMP1, BMP2, BMPR1B, SF3B4, SH3BP2, FBXW4, SHH, SHOX, SKI, SLCO2A1, SLC26A2, SMARCAL1, SMC1A, SOX9, SQSTM1, TBX15 , (...)
View the complete list with 236 more genes
Specificity
1 %
Genes
100 % |
Achondrogenesis Deletion/ Duplication panel.
By Connective Tissue Gene Tests (United States).
SLC26A2, TRIP11
Specificity
100 %
Genes
100 % |
You can get up to 117 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
OMIM Rare Disease Search EngineIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like AUTOSOMAL DOMINANT OPTIC ATROPHY PLUS SYNDROME ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1; GACI1 ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME; AAMR