Adams-oliver Syndrome 3; Aos3

Description

Hassed et al. (2012) described an autosomal dominant form of Adams-Oliver syndrome involving characteristic vertex scalp defects and terminal limb defects, but without congenital heart defects, other associated defects, or immune defects.For a discussion of genetic heterogeneity of Adams-Oliver syndrome, see AOS1 (OMIM ).

Clinical Features

Top most frequent phenotypes and symptoms related to Adams-oliver Syndrome 3; Aos3

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Motor delay
  • Syndactyly
  • Abnormal heart morphology
  • Blepharophimosis
  • Short distal phalanx of finger
  • Short palpebral fissure
  • Short metatarsal

And another 3 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

Not enough data available about incidence and published cases.
No data available about the known clinical features onset.

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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Adams-oliver Syndrome 3; Aos3 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
RBPJ. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

RBPJ
Specificity
100 %
Genes
100 %
Adams-Oliver syndrome 3 (AOS3, sequence analysis of RBPJ gene).

By CGC Genetics (Portugal).

RBPJ
Specificity
100 %
Genes
100 %
Cornelia de Lange Syndrome and Cornelia de Lange Syndrome-Related Disorders Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

SMARCA4, SMARCB1, SMARCE1, ARID1A, SMC1A, SOX11, TAF1, TAF6, MED12, HDAC8, CTCF, SRCAP, AFF4, ARID1B, PHF6, DOCK6, CHD7, WDR26, ANKRD11, CREBBP , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
100 %
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 %
Adams-Oliver syndrome Deletion/ Duplication panel.

By Connective Tissue Gene Tests (United States).

DOCK6, EOGT, DLL4, ARHGAP31, RBPJ, NOTCH1
Specificity
17 %
Genes
100 %
Adams-Oliver syndrome NGS panel.

By Connective Tissue Gene Tests (United States).

DOCK6, EOGT, DLL4, ARHGAP31, RBPJ, NOTCH1
Specificity
17 %
Genes
100 %
Adams-Oliver syndrome Comprehensive panel.

By Connective Tissue Gene Tests (United States).

DOCK6, EOGT, DLL4, ARHGAP31, RBPJ, NOTCH1
Specificity
17 %
Genes
100 %
Mental Retardation and Dysmorphology - panels.

By MGZ Medical Genetics Center (Germany).

RIT1, ROR2, RPL10, RPS6KA3, RRAS, SALL1, SF3B4, SGSH, ST3GAL3, SLC16A2, BRAF, SLC6A8, SLC9A6, SNAI2, SMARCA2, SMARCA4, SMARCB1, SMARCE1, ARID1A, SMC1A , (...)

View the complete list with 322 more genes
Specificity
1 %
Genes
100 %

We have 11 more panels available in our App

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Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

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