Adams-oliver Syndrome 2; Aos2

Description

Adams-Oliver syndrome-2 is an autosomal recessive multiple congenital anomaly syndrome characterized by aplasia cutis congenita (ACC) and terminal transverse limb defects, in association with variable involvement of the brain, eyes, and cardiovascular systems (summary by Shaheen et al., 2011).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 2; Aos2

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Growth delay
  • Hypertelorism
  • Micrognathia
  • Strabismus
  • Spasticity

And another 58 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 2; Aos2 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Vascular Malformations NGS Multi-Gene Panel (21 Genes).

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam (Netherlands).

BMPR2, SOX18, TEK, GLMN, CAV1, KRIT1, ACVRL1, DOCK6, ANTXR1, CCM2, ENG, GDF2, GNAQ, KCNK3, KDR, SMAD4, MAP3K3, PDCD10, PIK3CA, PTEN , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
DOCK6. Complete sequencing.

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

DOCK6
Specificity
100 %
Genes
100 %
Adams-Oliver syndrome (AOS2, sequence analysis of DOCK6 gene).

By CGC Genetics (Portugal).

DOCK6
Specificity
100 %
Genes
100 %
Congenital Limb Malformation Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

ROR2, SALL1, BMP2, BMPR1B, SF3B4, FBXW4, SHH, BRCA2, SOX9, TBX15, TBX3, TBX5, THPO, WNT3, WNT7A, LMBR1, NSDHL, HDAC4, SALL4, TP63 , (...)

View the complete list with 48 more genes
Specificity
2 %
Genes
100 %
Adams-Oliver Syndrome via DOCK6 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

DOCK6
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 %

We have 16 more panels available in our App

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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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