Synpolydactyly Type 2

Clinical Features

Phenotypes and symptoms related to Synpolydactyly Type 2

  • Syndactyly
  • Polydactyly
  • Toe syndactyly
  • Tarsal synostosis
  • Carpal synostosis
  • Metacarpal synostosis
  • Metatarsal synostosis

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

Synpolydactyly Type 2 Is also known as spd2, spd, debeer type, sd2, debeer type, synpolydactyly, 3/3-prime/4, associated with metacarpal and metatarsal synostoses, sd2b, synpolydactyly, debeer type.

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.


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Synpolydactyly Type 2 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Congenital Limb Malformation Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

ROR2, SALL1, BMP2, BMPR1B, SF3B4, FBXW4, SHH, BRCA2, SOX9, TBX15, TBX3, TBX5, THPO, WNT3, WNT7A, LMBR1, NSDHL, HDAC4, SALL4, TP63 , (...)

View the complete list with 48 more genes
Specificity
2 %
Genes
100 %
Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

RMRP, ROR2, RUNX2, SALL1, BMP1, BMP2, BMPR1B, SF3B4, SH3BP2, FBXW4, SHH, SHOX, SKI, SLCO2A1, SLC26A2, SMARCAL1, SMC1A, SOX9, SQSTM1, TBX15 , (...)

View the complete list with 236 more genes
Specificity
1 %
Genes
100 %
Isolated limb hypoplasia and limb reduction defects: Split-hand/foot; Synostosis; isolated Brachydactyly; Polydactyly; Syndactyly Panel.

By CeGaT GmbH (Germany).

ROR2, BMP2, BMPR1B, WNT10B, WNT7A, LMBR1, TP63, TRPV4, BHLHA9, FBLN1, FGF16, GDF5, GJA1, GLI3, HOXA11, HOXD13, IHH, LRP4, NOG, PTHLH
Specificity
5 %
Genes
100 %
Limb Malformation: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics (United States).

ROR2, SALL1, BMP2, BMPR1B, FBXW4, SHH, SOX9, TBX15, TBX3, TBX5, THPO, WNT3, WNT7A, LMBR1, HDAC4, SALL4, TP63, CHSY1, CDH3, GREM1 , (...)

View the complete list with 26 more genes
Specificity
3 %
Genes
100 %
Skeletal Dysplasia: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics (United States).

ROR2, RUNX2, SALL1, BMP2, BMPR1B, FBXW4, SHH, SHOX, SLC25A12, SLC26A2, SMARCAL1, SOX9, TBCE, TBX15, TBX3, TBX5, TBXAS1, TCIRG1, TGFB1, THPO , (...)

View the complete list with 141 more genes
Specificity
1 %
Genes
100 %
Skeletal Dysplasias NGS panel.

By Fulgent Genetics Fulgent Genetics (United States).

ROR2, RUNX2, SALL1, BMP2, BMPR1B, FBXW4, SHH, SLC25A12, SLC26A2, SMARCAL1, SOX9, TBCE, TBX15, TBX3, TBX5, TBXAS1, TCIRG1, TGFB1, THPO, TNFRSF11A , (...)

View the complete list with 139 more genes
Specificity
1 %
Genes
100 %
FBLN1.

By Fulgent Genetics Fulgent Genetics (United States).

FBLN1
Specificity
100 %
Genes
100 %
SYNDACTYLY TYPE 2 (SINPOLYDACTYLY).

By Laboratorio de Genetica Clinica SL (Spain).

FBLN1, HOXD13
Specificity
50 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

ORPHANET MESH OMIM Rare Disease Symptoms Checker

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