Camptosynpolydactyly, Complex; Ccspd
Clinical Features
Phenotypes and symptoms related to Camptosynpolydactyly, Complex; Ccspd
- Syndactyly
- Polydactyly
- Camptodactyly
- Toe syndactyly
- Small nail
- Cutaneous syndactyly
- Toenail dysplasia
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
Camptosynpolydactyly, Complex; Ccspd Is also known as camptopolydactyly, disorganization 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.Camptosynpolydactyly, Complex; Ccspd Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
---|
Mesoaxial synostotic syndactyly with phalangeal reduction (sequence analysis of BHLHA9 gene).
By CGC Genetics (Portugal).
BHLHA9
Specificity
100 %
Genes
100 % |
Mesoaxial Synostotic Syndactyly with Phalangeal Reduction (MSSD) via BHLHA9 Gene Sequencing with CNV Detection.
By PreventionGenetics PreventionGenetics (United States).
BHLHA9
Specificity
100 %
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 % |
Syndactyly, mesoaxial synostotic, with phalangeal reduction.
By Centogene AG - the Rare Disease Company (Germany).
BHLHA9
Specificity
100 %
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 % |
BHLHA9.
By Fulgent Genetics Fulgent Genetics (United States).
BHLHA9
Specificity
100 %
Genes
100 % |
Comprehensive Skeletal Dysplasias and Disorders Panel.
By Blueprint Genetics (Finland).
RMRP, ROR2, BGN, RUNX2, BMP1, BMP2, BMPR1B, SF3B4, SH3BP2, SHOX, SKI, SLCO2A1, SLC26A2, SMARCAL1, SMC1A, SOX9, TBX15, TBX3, TBX4, TBX6 , (...)
View the complete list with 223 more genes
Specificity
1 %
Genes
100 % |
Limb Malformations Panel.
By Blueprint Genetics (Finland).
SALL1, SF3B4, BRCA2, SMC1A, TBX3, TBX5, WNT7A, XRCC2, HDAC8, NSDHL, SALL4, TP63, DOCK6, BRIP1, FANCL, FANCM, SLX4, SMC3, FANCI, PALB2 , (...)
View the complete list with 25 more genes
Specificity
3 %
Genes
100 % |
You can get up to 1 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
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