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
  • Pica
  • Microcephaly
  • Hypertelorism
  • Growth delay
  • Micrognathia
  • Strabismus
And another 66 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.


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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 in Netherlands.

PTEN, SMAD4, ENG, KRIT1, CCM2, PDCD10, RASA1, SOX18, ACVRL1, GDF2, KCNK3, CAV1, BMPR2, GLMN, TEK, PIK3CA, GNAQ, KDR, MAP3K3, DOCK6 , (...)

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

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

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

By CGC Genetics in Portugal.

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

By PreventionGenetics PreventionGenetics in United States.

BRCA2, RECQL4, COL2A1, CC2D2A, CEP290, SHH, DHODH, MKS1, FGFR3, FGFR2, NIPBL, PALB2, BRIP1, RAD51C, FIG4, FLNA, PIGV, SALL1, CHSY1, NSDHL , (...)

View the complete list with 49 more genes
Specificity
2 %
Genes
100 %
Adams-Oliver Syndrome via the DOCK6 Gene.

By PreventionGenetics PreventionGenetics in United States.

DOCK6
Specificity
100 %
Genes
100 %
Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, IFITM5, LRP5, COL2A1, COL1A1, COL1A2, COL3A1, SOST, TGFB1, LEMD3, TNFRSF11A, CLCN7, SHH, FBN1, DHODH , (...)

View the complete list with 238 more genes
Specificity
1 %
Genes
100 %
Cornelia de Lange Syndrome and Cornelia de Lange Syndrome-Related Discorders Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

CHD7, CREBBP, HDAC8, RAD21, SMC3, SMC1A, NIPBL, ANKRD11, PHF6, MED12, ARID1B, TAF1, NOTCH1, SMARCE1, SOX11, KMT2A, SMARCA4, SMARCB1, ARID1A, EP300 , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
100 %
Adams-Oliver syndrome Deletion/ Duplication panel.

By Connective Tissue Gene Tests in United States.

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

By Connective Tissue Gene Tests in United States.

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

By Connective Tissue Gene Tests in United States.

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

By MGZ Medical Genetics Center in Germany.

FMR1, UBE3A, PTEN, RECQL4, AGL, ATP7A, GAA, LRP5, SLC37A4, GNPTAB, GLB1, HSD17B10, OCRL, JAG1, NDP, HPRT1, NHS, RAF1, SMPD1, MECP2 , (...)

View the complete list with 323 more genes
Specificity
1 %
Genes
100 %
Syndromal Diseases - panels.

By MGZ Medical Genetics Center in Germany.

FMR1, UBE3A, PTEN, RECQL4, AGL, ATP7A, GAA, LRP5, SLC37A4, GNPTAB, GLB1, HSD17B10, OCRL, JAG1, NDP, HPRT1, NHS, RAF1, SMPD1, MECP2 , (...)

View the complete list with 322 more genes
Specificity
1 %
Genes
100 %
Adams-Oliver syndrome type 2.

By Centogene AG - the Rare Disease Company in Germany.

DOCK6
Specificity
100 %
Genes
100 %
DOCK6.

By Fulgent Genetics Fulgent Genetics in United States.

DOCK6
Specificity
100 %
Genes
100 %
Adams-Oliver Syndrome Panel.

By Blueprint Genetics in Finland.

NOTCH1, UBR1, ARHGAP31, DOCK6, RBPJ, EOGT, KCTD1, DLL4
Specificity
13 %
Genes
100 %
Comprehensive Skeletal Dysplasias and Disorders Panel.

By Blueprint Genetics in Finland.

RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, LRP5, COL2A1, COL1A1, COL1A2, SOST, TGFB1, LEMD3, TNFRSF11A, PYCR1, CLCN7, ATP6V0A2, FBN1, SERPINF1, SP7 , (...)

View the complete list with 226 more genes
Specificity
1 %
Genes
100 %
Limb Malformations Panel.

By Blueprint Genetics in Finland.

BRCA2, RECQL4, DHODH, FANCC, HDAC8, RAD21, SMC3, SMC1A, NIPBL, PALB2, BRIP1, RAD51C, SALL1, DLX5, FANCB, NSDHL, ATR, NOTCH1, TP63, FGF10 , (...)

View the complete list with 25 more genes
Specificity
3 %
Genes
100 %
Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel.

By Blueprint Genetics in Finland.

RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, BCS1L, IFITM5, LRP5, COL2A1, COL1A1, COL1A2, COL3A1, SOST, TGFB1, LEMD3, TNFRSF11A, PYCR1, CLCN7, ATP6V0A2 , (...)

View the complete list with 288 more genes
Specificity
1 %
Genes
100 %
ADAMS-OLIVER SYNDROME 2; AOS2.

By Bioarray in Spain.

DOCK6
Specificity
100 %
Genes
100 %
ADAMS-OLIVER SYNDROME.

By Laboratorio de Genetica Clinica SL in Spain.

ARHGAP31, DOCK6, RBPJ, EOGT
Specificity
25 %
Genes
100 %
Adams-Oliver syndrome type 2.

By LifeLabs Genetics in Canada.

DOCK6
Specificity
100 %
Genes
100 %
Adams-Oliver Type 2 Syndrome, Sequencing DOCK6 Gene.

By Reference Laboratory Genetics in Spain.

DOCK6
Specificity
100 %
Genes
100 %
Adams-Oliver Syndrome, Panel Massive Sequencing (NGS) 3 Genes.

By Reference Laboratory Genetics in Spain.

NOTCH1, ARHGAP31, DOCK6
Specificity
34 %
Genes
100 %


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