Arthrogryposis, Distal, Type 3; Da3

Description

DA3, or Gordon syndrome, is distinguished from other distal arthrogryposes by short stature and cleft palate (summary by Bamshad et al., 2009).There are 2 syndromes with features overlapping those of DA3 that are also caused by heterozygous mutation in PIEZO2: distal arthrogryposis type 5 (DA5 ) and Marden-Walker syndrome (MWKS ), which are distinguished by the presence of ocular abnormalities and mental retardation, respectively. McMillin et al. (2014) suggested that the 3 disorders may represent variable expressivity of the same condition.For a phenotypic description and a discussion of genetic heterogeneity of distal arthrogryposis, see DA1 (OMIM ).

Clinical Features

Top most frequent phenotypes and symptoms related to Arthrogryposis, Distal, Type 3; Da3

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Micrognathia
  • Ptosis
  • Cleft palate
  • Cryptorchidism
  • Epicanthus
  • High palate
  • Short neck
And another 38 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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Arthrogryposis, Distal, Type 3; Da3 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Congenital Contractures Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

FKBP10, COL3A1, FBN1, PLOD3, SLC39A13, PLOD2, ALG2, CHAT, CHRNE, DOK7, NEB, RAPSN, DNM2, LMNA, UBA1, TPM3, ACTA1, CNTN1, TPM2, MYH2 , (...)

View the complete list with 37 more genes
Specificity
2 %
Genes
100 %
Distal Arthrogryposis Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago in United States.

TPM2, NALCN, FBN2, CHST14, TNNI2, TNNT3, MYH3, PIEZO2, MYBPC1, ECEL1, MYH8
Specificity
10 %
Genes
100 %
Distal Arthrogryposis Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

TPM2, NALCN, FBN2, CHST14, TNNI2, TNNT3, MYH3, PIEZO2, MYBPC1, ECEL1, MYH8
Specificity
10 %
Genes
100 %
Ataxia Exome Panel.

By Genetic Services Laboratory University of Chicago in United States.

FMR1, TTR, UBE3A, AARS2, ABHD12, PC, UQCRQ, UQCRB, HLCS, BTD, ATP7B, ATPAF2, AUH, BCKDHA, BCKDHB, BCS1L, TWNK, C12orf65, ADSL, PRKCG , (...)

View the complete list with 460 more genes
Specificity
1 %
Genes
100 %
Ciliopathies (NGS panel for 90 genes).

By CGC Genetics in Portugal.

INVS, INPP5E, CC2D2A, TMEM67, ARL6, NPHP3, NPHP1, MKKS, CEP290, TTC8, TRIM32, NPHP4, CCDC39, CCDC28B, XPNPEP3, IQCB1, BBS7, BBS5, BBS12, MKS1 , (...)

View the complete list with 70 more genes
Specificity
2 %
Genes
100 %
Arthrogryposis distal (sequence analysis of PIEZO2 gene).

By CGC Genetics in Portugal.

PIEZO2
Specificity
100 %
Genes
100 %
Arthrogryposis distal (sequence analysis of PIEZO2 gene).

By CGC Genetics in Portugal.

PIEZO2
Specificity
100 %
Genes
100 %
Distal Arthrogryposis Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

TPM2, NALCN, FBN2, CHST14, TNNI2, TNNT3, MYH3, PIEZO2, MYBPC1, ECEL1, MYH8
Specificity
10 %
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 %
Distal Arthrogryposis/Gordon Syndrome via the PIEZO2 Gene.

By PreventionGenetics PreventionGenetics in United States.

PIEZO2
Specificity
100 %
Genes
100 %
Congenital contracture syndrome extended NGS panel.

By Connective Tissue Gene Tests in United States.

DOK7, RAPSN, DNM2, LMNA, TPM2, MUSK, CHRNA1, CHRND, CHRNG, NALCN, FBN2, GLE1, TNNI2, NEK9, TNNT3, MYH3, PIEZO2, GLDN, ADGRG6, ADCY6 , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
100 %
Congenital contracture syndrome extended Comprehensive panel.

By Connective Tissue Gene Tests in United States.

DOK7, RAPSN, DNM2, LMNA, TPM2, MUSK, CHRNA1, CHRND, CHRNG, NALCN, FBN2, GLE1, TNNI2, NEK9, TNNT3, MYH3, PIEZO2, GLDN, ADGRG6, ADCY6 , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
100 %
Congenital contracture syndrome extended Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

DOK7, RAPSN, DNM2, LMNA, TPM2, MUSK, CHRNA1, CHRND, CHRNG, NALCN, FBN2, GLE1, TNNI2, NEK9, TNNT3, MYH3, PIEZO2, GLDN, ADGRG6, ADCY6 , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
100 %
Distal arthrogryposes NGS panel.

By Connective Tissue Gene Tests in United States.

TPM2, NALCN, FBN2, TNNI2, TNNT3, MYH3, PIEZO2, MYBPC1, ECEL1, MYH8
Specificity
10 %
Genes
100 %
Distal arthrogryposes Comprehensive panel.

By Connective Tissue Gene Tests in United States.

TPM2, NALCN, FBN2, TNNI2, TNNT3, MYH3, PIEZO2, MYBPC1, ECEL1, MYH8
Specificity
10 %
Genes
100 %
Distal arthrogryposes Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

TPM2, NALCN, FBN2, TNNI2, TNNT3, MYH3, PIEZO2, MYBPC1, ECEL1, MYH8
Specificity
10 %
Genes
100 %
Arthrogryposis, distal, type 3/5.

By Institute of Human Genetics Cologne University in Germany.

PIEZO2
Specificity
100 %
Genes
100 %
Congenital Muscular Dystrophy, Collagen Type VI-Associated (Bethlem/Ullrich) and Phenocopies.

By MGZ Medical Genetics Center in Germany.

COL6A2, COL6A3, COL6A1, FKBP14, TNXB, COL12A1, PIEZO2
Specificity
15 %
Genes
100 %
Muscle Disease with Contractures and/or Rigid Spine.

By MGZ Medical Genetics Center in Germany.

GAA, NEB, CAPN3, RAPSN, DNM2, LMNA, FHL1, SELENON, RYR1, KLHL40, TPM3, ACTA1, KBTBD13, CFL2, TPM2, TNNT1, SYNE1, TMEM43, SYNE2, EMD , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
100 %
Muscle Weakness (Myopathy, Muscular Dystrophy).

By MGZ Medical Genetics Center in Germany.

TTR, ACAD9, ACADM, ACADS, AGL, ACADVL, TWNK, GAA, TUBB3, AMACR, CPT2, GNE, TRIM32, POLG, SLC25A4, GARS, RRM2B, MFN2, CRYAB, HADHA , (...)

View the complete list with 159 more genes
Specificity
1 %
Genes
100 %
AllNeuro panel.

By Centogene AG - the Rare Disease Company in Germany.

F2, F5, FMR1, HTT, HFE, MTHFR, TTR, UBE3A, VHL, PTEN, AARS2, ABHD12, ACACA, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1 , (...)

View the complete list with 1185 more genes
Specificity
1 %
Genes
100 %
Congenital Myasthenic Syndromes and Arthrogryposis Panel.

By CeGaT GmbH in Germany.

FKBP10, PLOD2, ALG2, CHAT, DPAGT1, CHRNE, DOK7, RAPSN, DNM2, SCN4A, LAMB2, TPM2, SYNE1, PLEC, COLQ, MUSK, GFPT1, AGRN, CHRNA1, CHRND , (...)

View the complete list with 24 more genes
Specificity
3 %
Genes
100 %
Brain malformations.

By Asper Biogene Asper Biogene LLC in Estonia.

TUBB3, INPP5E, CC2D2A, ATP6V0A2, SRD5A3, TMEM67, NPHP1, CEP290, DLD, SLC25A19, MECP2, PDHB, TUBA1A, RARS2, PDP1, GCSH, GLDC, AMT, PDHA1, DLAT , (...)

View the complete list with 125 more genes
Specificity
1 %
Genes
100 %
PIEZO2.

By Fulgent Genetics Fulgent Genetics in United States.

PIEZO2
Specificity
100 %
Genes
100 %
Arthrogryposes Panel.

By Blueprint Genetics in Finland.

FKBP10, RARS2, TK2, PLOD2, SCO2, CHAT, GBE1, PMM2, DPAGT1, GBA, CHRNE, DOK7, FKTN, NEB, RAPSN, TRPV4, MPZ, EGR2, FHL1, SELENON , (...)

View the complete list with 49 more genes
Specificity
2 %
Genes
100 %
Distal Arthrogryposis, Massive Sequencing (NGS) 9 Genes.

By Reference Laboratory Genetics in Spain.

TPM2, FBN2, TNNI2, TNNT3, MYH3, PIEZO2, MYBPC1, SCARF2, MYH8
Specificity
12 %
Genes
100 %

Alternate names

Arthrogryposis, Distal, Type 3; Da3 Is also known as gordon syndrome, arthrogryposis multiplex congenita, distal, type iia, camptodactyly, cleft palate, and clubfoot;camptodactyly-cleft palate-clubfoot syndrome; distal arthrogryposis type 3; distal arthrogryposis type iia.



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