Brachydactyly, Type A1; Bda1

Description

In the classification of the brachydactylies, the analysis by Bell (1951) proved highly useful. The type A brachydactylies of Bell have the shortening confined mainly to the middle phalanges. In the A1 type, the middle phalanges of all the digits are rudimentary or fused with the terminal phalanges. The proximal phalanges of the thumbs and big toes are short. Genetic Heterogeneity of Brachydactyly Type A1BDA1B (OMIM ) has been mapped to chromosome 5. BDA1C (OMIM ) is caused by mutation in the GDF5 gene (OMIM ) on chromosome 20q11. BDA1D (OMIM ) is caused by mutation in the BMPR1B gene (OMIM ) on chromosome 4q22.

Clinical Features

Top most frequent phenotypes and symptoms related to Brachydactyly, Type A1; Bda1

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Brachydactyly
  • Talipes equinovarus
  • Clinodactyly of the 5th finger
  • Short palm
  • Short distal phalanx of finger
  • Short foot
  • Short metacarpal
And another 21 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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Brachydactyly, Type A1; Bda1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Comprehensive Pulmonary Panel.

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

INVS, FBLN5, ELN, DTNBP1, RPGR, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, CCDC39, AP3B1, ALMS1, STAT3, CFTR, FOXF1, TINF2, TSC2, TSC1 , (...)

View the complete list with 73 more genes
Specificity
2 %
Genes
34 %
Arterial Hypertension Panel.

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

SMAD4, ENG, ACVRL1, BMPR1B, GDF2, KCNK3, CAV1, SMAD9, KCNA5, ABCA3, BMPR2
Specificity
10 %
Genes
34 %
Pulmonary Hypertension Seq + Del/Dup Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

FOXF1, SMAD4, ENG, RASA1, ACVRL1, BMPR1B, GDF2, KCNK3, CAV1, SMAD9, KCNA5, BMPR2, EIF2AK4
Specificity
8 %
Genes
34 %
Pulmonary Hypertension Seq Analysis.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

FOXF1, SMAD4, ENG, RASA1, ACVRL1, BMPR1B, GDF2, KCNK3, CAV1, SMAD9, KCNA5, BMPR2, EIF2AK4
Specificity
8 %
Genes
34 %
Pulmonary Hypertension Del/Dup Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

FOXF1, SMAD4, ENG, RASA1, ACVRL1, BMPR1B, GDF2, KCNK3, CAV1, SMAD9, KCNA5, BMPR2, EIF2AK4
Specificity
8 %
Genes
34 %
Comprehensive Pulmonary-Vascular Seq Analysis.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

INVS, JAG1, RPGR, CCDC39, CFTR, FOXF1, SMAD4, GATA2, ENG, SLC7A7, FLNA, OFD1, RASA1, DKC1, MARS, TERC, ACVRL1, BMPR1B, DNAH8, DNAH1 , (...)

View the complete list with 45 more genes
Specificity
2 %
Genes
34 %
Comprehensive Pulmonary-Vascular Del/Dup Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

INVS, JAG1, RPGR, CCDC39, CFTR, FOXF1, SMAD4, GATA2, ENG, SLC7A7, FLNA, OFD1, RASA1, DKC1, MARS, TERC, ACVRL1, BMPR1B, DNAH8, DNAH1 , (...)

View the complete list with 44 more genes
Specificity
2 %
Genes
34 %
Comprehensive Pulmonary-Vascular Seq + Del/Dup Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

INVS, JAG1, RPGR, CCDC39, CFTR, FOXF1, SMAD4, GATA2, ENG, SLC7A7, FLNA, OFD1, RASA1, DKC1, MARS, TERC, ACVRL1, BMPR1B, DNAH8, DNAH1 , (...)

View the complete list with 44 more genes
Specificity
2 %
Genes
34 %
Brachydactyly type A2 (sequence analysis of BMPR1B gene).

By CGC Genetics in Portugal.

BMPR1B
Specificity
100 %
Genes
34 %
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
5 %
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
2 %
Genes
100 %
Pulmonary hypertension NGS panel.

By Connective Tissue Gene Tests in United States.

FOXF1, ENG, ACVRL1, BMPR1B, KCNK3, CAV1, SMAD9, BMPR2, EIF2AK4
Specificity
12 %
Genes
34 %
Pulmonary hypertension Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

FOXF1, ENG, ACVRL1, BMPR1B, KCNK3, CAV1, SMAD9, BMPR2, EIF2AK4
Specificity
12 %
Genes
34 %
Pulmonary hypertension Comprehensive panel.

By Connective Tissue Gene Tests in United States.

FOXF1, ENG, ACVRL1, BMPR1B, KCNK3, CAV1, SMAD9, BMPR2, EIF2AK4
Specificity
12 %
Genes
34 %
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
34 %
Vascular and connective tissue diseases - panels.

By MGZ Medical Genetics Center in Germany.

TTR, AGL, B4GALT7, ADSL, COL1A1, COL1A2, COL3A1, AMACR, POLG, AFG3L2, FBN1, AGK, SLC39A13, COQ8A, OTC, AIFM1, CBS, COL5A1, COL5A2, GLA , (...)

View the complete list with 47 more genes
Specificity
2 %
Genes
34 %
Brachydactyly, type A2.

By Centogene AG - the Rare Disease Company in Germany.

BMPR1B
Specificity
100 %
Genes
34 %
Arterial Hypertension, idiopathic pulmonary.

By Centogene AG - the Rare Disease Company in Germany.

BMPR1B
Specificity
100 %
Genes
34 %
Isolated limb hypoplasia and limb reduction defects: Split-hand/foot; Synostosis; isolated Brachydactyly; Polydactyly; Syndactyly Panel.

By CeGaT GmbH in Germany.

TRPV4, GLI3, TP63, BMPR1B, GJA1, HOXA11, ROR2, WNT7A, LRP4, HOXD13, PTHLH, GDF5, WNT10B, BMP2, BHLHA9, IHH, FBLN1, NOG, LMBR1, FGF16
Specificity
15 %
Genes
100 %
Pulmonary Arterial Hypertension.

By Asper Biogene Asper Biogene LLC in Estonia.

ENG, ACVRL1, BMPR1B, KCNK3, CAV1, SMAD9, BMPR2
Specificity
15 %
Genes
34 %
Inherited Cardiovascular Diseases and Sudden Death Panel.

By Health in Code in Spain.

HFE, TTR, AARS2, ACAD9, ACADM, AGL, ACADVL, ATPAF2, GAA, COL1A1, COL1A2, COL3A1, PSEN1, ELN, EYA4, GNPTAB, GLB1, PITX2, JAG1, DSP , (...)

View the complete list with 193 more genes
Specificity
1 %
Genes
34 %
Pulmonary Hypertension Panel.

By Health in Code in Spain.

SMAD4, ENG, NOTCH3, ACVRL1, BMPR1B, GDF2, KCNK3, CAV1, SMAD9, KCNA5, BMPR2, SMAD1
Specificity
9 %
Genes
34 %
Cardiovascular Diseases_General Panel.

By Health in Code in Spain.

HFE, TTR, AARS2, ACAD9, AGL, ACADVL, ATP5F1E, ATP7A, ATPAF2, B4GALT7, GAA, HNF1A, NEUROD1, PPARG, COL1A1, COL1A2, COL3A1, ELAC2, PSEN1, HNF1B , (...)

View the complete list with 360 more genes
Specificity
1 %
Genes
34 %
Pulmonary hypertension Panel.

By Health in Code in Spain.

FOXF1, SMAD4, ENG, NOTCH3, RASA1, ACVRL1, BMPR1B, GDF2, KCNK3, CAV1, SMAD9, KCNA5, BMPR2, EIF2AK4, SMAD1, TOPBP1
Specificity
7 %
Genes
34 %
Heritable pulmonary arterial hypertension.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

ACVRL1, BMPR1B, KCNK3, CAV1, SMAD9, BMPR2
Specificity
17 %
Genes
34 %
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
4 %
Genes
100 %
Limb Malformation: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

RECQL4, CC2D2A, CEP290, SHH, MKS1, FGFR3, FGFR2, NIPBL, PIGV, SALL1, CHSY1, SOX9, GLI3, TP63, CDH3, BMPR1B, PITX1, FGF10, SALL4, TBX5 , (...)

View the complete list with 26 more genes
Specificity
7 %
Genes
100 %
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
2 %
Genes
100 %
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
4 %
Genes
100 %
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
2 %
Genes
100 %
BMPR1B.

By Fulgent Genetics Fulgent Genetics in United States.

BMPR1B
Specificity
100 %
Genes
34 %
Brachydactyly / Syndactyly Panel.

By Blueprint Genetics in Finland.

RECQL4, DHCR7, CHSY1, SOX9, TP63, BMPR1B, GNAS, MYCN, ESCO2, HOXA13, ROR2, CCNQ, PDE4D, PTDSS1, HOXD13, PTHLH, GDF5, BMP2, IHH, NOG
Specificity
15 %
Genes
100 %
Skeletal Dysplasias Core Panel.

By Blueprint Genetics in Finland.

ALPL, ANKH, FKBP10, LRP5, COL2A1, COL1A1, COL1A2, TGFB1, TNFRSF11A, CLCN7, SERPINF1, SLC39A13, P3H1, CRTAP, PLOD2, AGPS, CTSK, CYP27B1, FAM20C, CA2 , (...)

View the complete list with 91 more genes
Specificity
3 %
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
2 %
Genes
100 %
Micromelic Dysplasia Panel.

By Blueprint Genetics in Finland.

FBN1, FGFR3, SMAD4, PRKAR1A, SHOX, WDR35, SOX9, ADAMTSL2, IFT140, LTBP2, BMPR1B, WDR19, GNAS, IFT122, EXT1, WNT5A, ROR2, LIFR, SLC35D1, TRIP11 , (...)

View the complete list with 7 more genes
Specificity
12 %
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 %
BRACHYDACTYLY TYPE A2 (BRACHYDACTYLY MOHR-WRIEDT TYPE).

By Laboratorio de Genetica Clinica SL in Spain.

BMPR1B, GDF5, BMP2
Specificity
67 %
Genes
67 %
Brachydactyly Type A2, Panel Massive Sequencing (NGS) BMPR1B, BMP2, GDF5 Genes.

By Reference Laboratory Genetics in Spain.

BMPR1B, GDF5, BMP2
Specificity
67 %
Genes
67 %
Brachydactyly , Panel Massive Sequencing (NGS) 18 Genes.

By Reference Laboratory Genetics in Spain.

RECQL4, CHSY1, SOX9, TP63, BMPR1B, GNAS, MGP, ESCO2, HOXA13, ROR2, TBX15, WNT7A, HOXD13, PTHLH, GDF5, BMP2, IHH, NOG
Specificity
17 %
Genes
100 %
Tempus xO assay.

By Tempus Labs, Inc. in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, ABCB11, ABCB4, FKBP10, FOXL2, HNF1A, PPARG , (...)

View the complete list with 1693 more genes
Specificity
1 %
Genes
67 %
GDF5. Complete sequencing.

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

GDF5
Specificity
100 %
Genes
34 %
Chondrodysplasia, Grebe type (sequence analysis of GDF5 gene).

By CGC Genetics in Portugal.

GDF5
Specificity
100 %
Genes
34 %
Acromesomelic dysplasia, Hunter-Thompson type (sequence analysis of GDF5 gene).

By CGC Genetics in Portugal.

GDF5
Specificity
100 %
Genes
34 %
Chondrodysplasia, Grebe type (deletion/duplication analysis of GDF5 gene).

By CGC Genetics in Portugal.

GDF5
Specificity
100 %
Genes
34 %
Chondrodysplasia, Grebe type (deletion/duplication analysis of GDF5 gene).

By CGC Genetics in Portugal.

GDF5
Specificity
100 %
Genes
34 %
GDF5-related Disorders via GDF5 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

GDF5
Specificity
100 %
Genes
34 %
Chondrodysplasia, Grebe Type.

By Bioscientia GmbH Center for Human Genetics in Germany.

GDF5
Specificity
100 %
Genes
34 %
Brachydactyly Type C.

By Bioscientia GmbH Center for Human Genetics in Germany.

GDF5
Specificity
100 %
Genes
34 %
Acromesomelic Dysplasia, Hunter-Thompson Type.

By Bioscientia GmbH Center for Human Genetics in Germany.

GDF5
Specificity
100 %
Genes
34 %
GDF5 (CDMP1)-related disorders.

By bio.logis Center for Human Genetics Diagnosticum in Germany.

GDF5
Specificity
100 %
Genes
34 %
Chondrodysplasia, Grebe Type.

By bio.logis Center for Human Genetics Diagnosticum in Germany.

GDF5
Specificity
100 %
Genes
34 %
Fibular Hypoplasia and Complex Brachydactyly.

By bio.logis Center for Human Genetics Diagnosticum in Germany.

GDF5
Specificity
100 %
Genes
34 %
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
11 %
Genes
67 %
Potentially lethal skeletal disorders Panel.

By CeGaT GmbH in Germany.

ALPL, COL2A1, COL1A1, COL1A2, P3H1, CRTAP, AGPS, FAM20C, PPIB, FGFR3, DHCR7, FGFR2, PEX7, SLC26A2, TRPV4, FLNA, OFD1, LBR, COL11A1, COL11A2 , (...)

View the complete list with 24 more genes
Specificity
3 %
Genes
34 %
GDF5.

By Fulgent Genetics Fulgent Genetics in United States.

GDF5
Specificity
100 %
Genes
34 %
Craniosynostosis Panel.

By Blueprint Genetics in Finland.

RECQL4, ALPL, FGFR3, FGFR2, FGFR1, PAX3, EDNRB, SOX10, WDR35, RAB23, POR, MSX2, TWIST1, TGFBR1, TGFBR2, SKI, GLI3, IFT140, WDR19, ALX4 , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
34 %
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
34 %
Fibular aplasia - complex brachydactyly.

By Bioarray in Spain.

GDF5
Specificity
100 %
Genes
34 %
CarrierMap.

By Recombine in United States.

FMR1, MTHFR, MCCC1, MCCC2, ABCB11, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOB, PC, USH1C, ALPL, ARG1, HLCS, ATP7A, BTD, ATP7B, BCKDHA , (...)

View the complete list with 281 more genes
Specificity
1 %
Genes
34 %
BRACHYDACTYLY TYPE A1.

By Laboratorio de Genetica Clinica SL in Spain.

GDF5, IHH
Specificity
100 %
Genes
67 %
BRACHYDACTYLY TYPE C.

By Laboratorio de Genetica Clinica SL in Spain.

GDF5
Specificity
100 %
Genes
34 %
SYNOSTOSIS, MULTIPLE.

By Laboratorio de Genetica Clinica SL in Spain.

GDF5, FGF9, NOG
Specificity
34 %
Genes
34 %
Du Pan Syndrome, Sequencing GDF5 Gene.

By Reference Laboratory Genetics in Spain.

GDF5
Specificity
100 %
Genes
34 %
Multiple Synostosis Syndrome and Related Disorders , Panel Massive Sequencing (NGS) 6 Genes.

By Reference Laboratory Genetics in Spain.

TTR, HOXA11, FLNB, GDF5, FGF9, NOG
Specificity
17 %
Genes
34 %
Brachydactyly type A1 (sequence analysis of IHH gene).

By CGC Genetics in Portugal.

IHH
Specificity
100 %
Genes
34 %
Brachydactyly type A1 (sequence analysis of IHH gene).

By CGC Genetics in Portugal.

IHH
Specificity
100 %
Genes
34 %
Spondylo-Epi-Metaphyseal dysplasias Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

COL2A1, FGFR3, COL10A1, IDUA, RMRP, RUNX2, SBDS, SLC26A2, TRPV4, HSPG2, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, CANT1, PTH1R, COMP, DYM, CFAP410 , (...)

View the complete list with 34 more genes
Specificity
2 %
Genes
34 %
Spondylo-Epi-Metaphyseal dysplasias Comprehensive panel.

By Connective Tissue Gene Tests in United States.

COL2A1, FGFR3, COL10A1, IDUA, RMRP, RUNX2, SBDS, SLC26A2, TRPV4, HSPG2, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, CANT1, PTH1R, COMP, DYM, CFAP410 , (...)

View the complete list with 34 more genes
Specificity
2 %
Genes
34 %
Spondylo-Epi-Metaphyseal dysplasias NGS panel.

By Connective Tissue Gene Tests in United States.

COL2A1, FGFR3, COL10A1, IDUA, RMRP, RUNX2, SBDS, SLC26A2, TRPV4, HSPG2, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, CANT1, PTH1R, COMP, DYM, CFAP410 , (...)

View the complete list with 34 more genes
Specificity
2 %
Genes
34 %
IHH.

By Fulgent Genetics Fulgent Genetics in United States.

IHH
Specificity
100 %
Genes
34 %
Brachydactyly Type A1 , Sequencing IHH Gene.

By Reference Laboratory Genetics in Spain.

IHH
Specificity
100 %
Genes
34 %

Alternate names

Brachydactyly, Type A1; Bda1 Is also known as farabee-type brachydactyly;brachydactyly, farabee type.



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