Adams-oliver Syndrome 6; Aos6

Description

Adams-Oliver syndrome is a rare developmental disorder defined by the combination of aplasia cutis congenita of the scalp vertex and terminal transverse limb defects (e.g., amputations, syndactyly, brachydactyly, or oligodactyly). In addition, vascular anomalies such as cutis marmorata telangiectatica congenita, pulmonary hypertension, portal hypertension, and retinal hypervascularization are recurrent findings. Congenital heart defects have been estimated to be present in 20% of AOS patients; reported malformations include ventricular septal defects, anomalies of the great arteries and their valves, and tetralogy of Fallot (summary by Stittrich et al., 2014).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 6; Aos6

  • Hypertension
  • Brachydactyly
  • Ventricular septal defect
  • Syndactyly
  • Abnormal heart morphology
  • Abnormal cardiac septum morphology
  • Renal hypoplasia
  • Hepatic fibrosis
  • Portal hypertension
  • Tricuspid regurgitation

And another 10 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 6; Aos6 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
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 %
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 %
Adams-Oliver syndrome type 6.

By Centogene AG - the Rare Disease Company (Germany).

DLL4
Specificity
100 %
Genes
100 %
DLL4.

By Fulgent Genetics Fulgent Genetics (United States).

DLL4
Specificity
100 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Search Engine

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