Atelosteogenesis Type Iii

Description

Atelosteogenesis III (AOIII) is a skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings.

Clinical Features

Top most frequent phenotypes and symptoms related to Atelosteogenesis Type Iii

  • Scoliosis
  • Micrognathia
  • Cleft palate
  • Depressed nasal bridge
  • Frontal bossing
  • Talipes equinovarus
  • Short neck
  • Malar flattening
  • Midface retrusion
  • Severe short stature

And another 17 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

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 Iii Is also known as aoiii, ao3, atelosteogenesis type 3.

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 Iii 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 more

Sources and references

You can check the following sources for additional information.

ORPHANET MESH OMIM Genetic Syndrome Finder

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1; SMAX1 SPASTIC PARAPLEGIA 42, AUTOSOMAL DOMINANT; SPG42 KALLMANN SYNDROME JOUBERT SYNDROME WITH JEUNE ASPHYXIATING THORACIC DYSTROPHY FUMARASE DEFICIENCY; FMRD