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). Genetic Heterogeneity of AtelosteogenesisAtelosteogenesis type II (AO2 ) is caused by mutation in the SLC26A2 gene (OMIM ) on chromosome 5q32. AO3 (OMIM ) is also caused by mutation in the FLNB gene (OMIM ).

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.

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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.


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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 %

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Sources and references

You can check the following sources for additional information.

MESH OMIM Rare Disease Search Engine

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like TUMOR PREDISPOSITION SYNDROME; TPDS TENORIO SYNDROME; TNORS SPONDYLOEPIPHYSEAL DYSPLASIA TARDA CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 3; FECD3 CK SYNDROME

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