Atelosteogenesis, Type I; Ao1
Description
Atelosteogenesis is the name given by Maroteaux et al. (1982) to a lethal chondrodysplasia characterized by distal hypoplasia of the humeri and femurs, hypoplasia of the midthoracic spine, occasionally complete lack of ossification of single hand bones, and the finding in cartilage of multiple degenerated chondrocytes encapsulated in fibrous tissue. Rimoin et al. (1980) termed it 'giant cell chondrodysplasia.' Patients with AO1 exhibit severe short-limbed dwarfism and dislocated elbows, hips, and knees (Jeon et al., 2014).
Clinical Features
Top most frequent phenotypes and symptoms related to Atelosteogenesis, Type I; Ao1
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
- Microcephaly
- Scoliosis
- Growth delay
- Hypertelorism
- Failure to thrive
- Micrognathia
And another 101 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
Atelosteogenesis, Type I; Ao1 Is also known as giant cell chondrodysplasia, spondylohumerofemoral hypoplasia, aoi.
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.Atelosteogenesis, Type I; Ao1 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
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 % |
 FLNB. Complete sequencing.
By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).
FLNB
Specificity
100 %
Genes
100 % |
|
FLNB. Sequencing of the exons 2-5 and exons 27-33.
By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).
FLNB
Specificity
100 %
Genes
100 % |
 Larsen Syndrome (sequence analysis of FLNB gene).
By CGC Genetics (Portugal).
FLNB
Specificity
100 %
Genes
100 % |
|
Spondylocarpotarsal synostosis (sequence analysis of FLNB gene).
By CGC Genetics (Portugal).
FLNB
Specificity
100 %
Genes
100 % |
|
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
4 %
Genes
100 % |
|
Larsen syndrome (deletion/duplication analysis on FLNB gene).
By CGC Genetics (Portugal).
FLNB
Specificity
100 %
Genes
100 % |
You can get up to 78 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
MESH 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 WEILL-MARCHESANI SYNDROME 3; WMS3 THROMBOCYTOPENIA 2; THC2 MAL DE MELEDA; MDM CHUDLEY-MCCULLOUGH SYNDROME; CMCS