Chromosome 17q23.1-q23.2 Duplication Syndrome

Description

17q23.1-q23.2 microduplication is a newly described cause of familial isolated clubfoot.

Clinical Features

Top most frequent phenotypes and symptoms related to Chromosome 17q23.1-q23.2 Duplication Syndrome

  • Short stature
  • Milia
  • Talipes equinovarus
  • Abnormality of the skeletal system
  • Genu valgum
  • Hip dysplasia
  • Small nail
  • Coxa valga
  • Hypoplastic toenails
  • Mild short stature
And another 1 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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Chromosome 17q23.1-q23.2 Duplication Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
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 %
Small Patella Syndrome via TBX4 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

TBX4
Specificity
100 %
Genes
100 %
Pulmonary diseases - panels.

By MGZ Medical Genetics Center in Germany.

ELN, SARS2, CFTR, ENG, NOTCH3, CAV3, COL4A1, NOTCH1, ACVRL1, BMPR1B, CCNO, DNAAF4, KCNK3, CAV1, SMAD9, DNAAF3, DNAAF1, RSPH9, RSPH4A, DNAAF2 , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
100 %
TBX4.

By Fulgent Genetics Fulgent Genetics in United States.

TBX4
Specificity
100 %
Genes
100 %
Pulmonary Artery Hypertension (PAH) Panel.

By Blueprint Genetics in Finland.

NFU1, FOXF1, SMAD4, ENG, RASA1, ACVRL1, KCNK3, CAV1, KCNA5, BMPR2, EIF2AK4, TBX4
Specificity
9 %
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 %
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 %
Onychopatellar Syndrome , Panel Massive Sequencing (NGS) LMXB1, PITX1, TBX4 Genes.

By Reference Laboratory Genetics in Spain.

LMX1B, PITX1, TBX4
Specificity
34 %
Genes
100 %

Alternate names

Chromosome 17q23.1-q23.2 Duplication Syndrome Is also known as ;hereditary clubfoot due to 17q23.1-q23.2 microduplication.



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