Adams-oliver Syndrome 4; Aos4

Description

Adams-Oliver syndrome is a rare congenital disorder characterized by aplasia cutis congenita and terminal transverse limb defects. Additional abnormalities may be present in other organs, e.g., heart, brain, and/or eyes (summary by Shaheen et al., 2013).For a discussion of genetic heterogeneity of Adams-Oliver syndrome (AOS), see AOS1 (OMIM ).

Clinical Features

Top most frequent phenotypes and symptoms related to Adams-oliver Syndrome 4; Aos4

  • Ventricular septal defect
  • Atrial septal defect
  • Microphthalmia
  • Patent ductus arteriosus
  • Umbilical hernia
  • Short toe
  • Hypoplastic toenails
  • Cutis marmorata
  • Anonychia
  • Aplasia cutis congenita

And another 2 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.

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 4; Aos4 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Adams-Oliver syndrome (AOS4, sequence analysis of EOGT gene).

By CGC Genetics (Portugal).

EOGT
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 %
Syndromal Diseases - 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 321 more genes
Specificity
1 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

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