Vacterl Association, X-linked, With Or Without Hydrocephalus; Vacterlx

Description

VACTERL is an acronym for vertebral anomalies (similar to those of spondylocostal dysplasia), anal atresia, cardiac malformations, tracheoesophageal fistula, renal anomalies (urethral atresia with hydronephrosis), and limb anomalies (hexadactyly, humeral hypoplasia, radial aplasia, and proximally placed thumb; see {192350}). Some patients may have hydrocephalus, which is referred to as VACTERL-H (Briard et al., 1984).

Clinical Features

Top most frequent phenotypes and symptoms related to Vacterl Association, X-linked, With Or Without Hydrocephalus; Vacterlx

  • Hypertelorism
  • Cleft palate
  • Ventricular septal defect
  • Hydrocephalus
  • Abnormality of cardiovascular system morphology
  • Abnormal heart morphology
  • Agenesis of corpus callosum
  • Retrognathia
  • Hydronephrosis
  • Abnormality of the kidney

And another 37 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.

Alternative names

Vacterl Association, X-linked, With Or Without Hydrocephalus; Vacterlx Is also known as vacterl-h, x-linked.

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.

Vacterl Association, X-linked, With Or Without Hydrocephalus; Vacterlx Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Ciliopathies.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

RPE65, RPGR, SDCCAG8, TSC1, TSC2, CEP41, TULP1, USH1C, USH2A, CLRN1, VHL, ZIC3, NEK8, RPGRIP1, CDH23, TMEM237, PCDH15, USH1G, WHRN, TRIM32 , (...)

View the complete list with 73 more genes
Specificity
2 %
Genes
100 %
Heterotaxia.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

ZIC3, CRELD1, ACVR2B, CITED2, NKX2-5, DNAH11, DNAH5, DNAI1, SHROOM3, LEFTY2, FOXH1, GATA4, GDF1, SMAD2, NODAL
Specificity
7 %
Genes
100 %
Heterotaxy V1 Panel.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

ZIC3, CFC1, FOXH1, NODAL
Specificity
25 %
Genes
100 %
ZIC3 Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

ZIC3
Specificity
100 %
Genes
100 %
Heterotaxy V2 Panel.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

ZIC3, CRELD1, ACVR2B, CFC1, BCL9L, NKX2-5, CFAP53, DNAH11, DNAH5, NAT10, SHROOM3, LEFTY2, FOXH1, GATA6, GDF1, GJA1, NODAL
Specificity
6 %
Genes
100 %
ZIC3. Complete sequencing.

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

ZIC3
Specificity
100 %
Genes
100 %
VACTERL association, X-linked (sequence analysis of ZIC3 gene).

By CGC Genetics (Portugal).

ZIC3
Specificity
100 %
Genes
100 %
Heterotaxy, visceral, 1, X-linked (sequence analysis of ZIC3 gene).

By CGC Genetics (Portugal).

ZIC3
Specificity
100 %
Genes
100 %

You can get up to 36 more panels with our dedicated tool

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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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