Omodysplasia 1; Omod1

Description

Omodysplasia-1 (OMOD1) is a rare autosomal recessive skeletal dysplasia characterized by severe congenital micromelia with shortening and distal tapering of the humeri and femora to give a club-like appearance. Typical facial features include a prominent forehead, frontal bossing, short nose with a depressed broad bridge, short columella, anteverted nostrils, long philtrum, and small chin. Variable findings are cryptorchidism, hernias, congenital heart defects, and cognitive delay (Elcioglu et al., 2004; Albano et al., 2007). Genetic Heterogeneity of OmodysplasiaIn an autosomal dominant form of omodysplasia (OMOD2 ), abnormalities are limited to the upper limbs. The facial changes and typical growth defect of the distal humerus with complex deformity of the elbows appear to be similar in both entities (Baxova et al., 1994).

Clinical Features

Top most frequent phenotypes and symptoms related to Omodysplasia 1; Omod1

  • Intellectual disability
  • Short stature
  • Pica
  • Micrognathia
  • Cryptorchidism
  • Low-set ears
  • Depressed nasal bridge
  • Epicanthus
  • Wide nasal bridge
  • Tics
And another 43 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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Omodysplasia 1; Omod1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
GPC6- Omodysplasia 1.

By Centre of Molecular Diseases (CMM) CHUV in Switzerland.

GPC6
Specificity
100 %
Genes
50 %
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
50 %
Omodysplasia Comprehensive panel.

By Connective Tissue Gene Tests in United States.

GPC6, FZD2
Specificity
50 %
Genes
50 %
Omodysplasia NGS panel.

By Connective Tissue Gene Tests in United States.

GPC6, FZD2
Specificity
50 %
Genes
50 %
Omodysplasia Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

GPC6, FZD2
Specificity
50 %
Genes
50 %
Omodysplasia type 1.

By Centogene AG - the Rare Disease Company in Germany.

GPC6
Specificity
100 %
Genes
50 %
Micromelic dysplasia: acromelic, acromesomelic, mesomelic and rhizo-mesomelic dysplasia Panel.

By CeGaT GmbH in Germany.

FBN1, FGFR3, PRKAR1A, WDR35, ADAMTSL2, IFT140, IFT43, IFT122, WNT5A, ROR2, PDE4D, ZSWIM6, GPC6, TRPS1, GDF5, DDR2, NPR2, IHH, GSC
Specificity
6 %
Genes
50 %
Disproportionate Short Stature: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ANKH, COL2A1, COL1A1, FBN1, SLC39A13, AGPS, CTSK, FAM20C, FGFR3, COL10A1, PTPN11, RUNX2, FGFR2, CDKN1C, PRKAR1A, SLC26A2, TRPV4, FGFR1, SHOX, ANO5 , (...)

View the complete list with 65 more genes
Specificity
2 %
Genes
50 %
Skeletal Dysplasia: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, IFITM5, LRP5, COL2A1, COL1A1, COL1A2, SOST, TGFB1, LEMD3, TNFRSF11A, PYCR1, CLCN7, CC2D2A, ATP6V0A2, TMEM67 , (...)

View the complete list with 143 more genes
Specificity
1 %
Genes
50 %
Disproportionate Short Stature: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ANKH, COL2A1, COL1A1, FBN1, SLC39A13, CTSK, FAM20C, FGFR3, COL10A1, PTPN11, RUNX2, FGFR2, CDKN1C, PRKAR1A, SLC26A2, TRPV4, FGFR1, SHOX, ANO5, HSPG2 , (...)

View the complete list with 56 more genes
Specificity
2 %
Genes
50 %
Skeletal Dysplasias NGS panel.

By Fulgent Genetics Fulgent Genetics in United States.

RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, IFITM5, LRP5, COL2A1, COL1A1, COL1A2, SOST, TGFB1, LEMD3, TNFRSF11A, PYCR1, CLCN7, CC2D2A, ATP6V0A2, TMEM67 , (...)

View the complete list with 141 more genes
Specificity
1 %
Genes
50 %
GPC6.

By Fulgent Genetics Fulgent Genetics in United States.

GPC6
Specificity
100 %
Genes
50 %
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
50 %
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
50 %
CEN4GEN Colorectal cancer: Extended Sequencing Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

APC, MSH2, MSH6, MLH1, TP53, CASP8, BRAF, DMD, KRAS, NRAS, ATM, SMAD4, CTNNB1, TGFBR2, SLC9A9, EP300, SMAD2, PIK3CA, FBXW7, AKT1 , (...)

View the complete list with 18 more genes
Specificity
3 %
Genes
50 %

Alternate names

Omodysplasia 1; Omod1 Is also known as omodysplasia, generalized form, omodysplasia, autosomal recessive, micromelic dysplasia, congenital, with dislocation of radius;micromelic dysplasia-dislocation of radius syndrome.



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