Symphalangism, Proximal, 1a; Sym1a
Description
Proximal symphalangism-1A (SYM1A) is an autosomal dominant disorder characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and, in some cases, conductive deafness (Strasburger et al., 1965).
Clinical Features
Top most frequent phenotypes and symptoms related to Symphalangism, Proximal, 1a; Sym1a
- Short stature
- Hearing impairment
- Brachydactyly
- Conductive hearing impairment
- Abnormality of the hand
- Tarsal synostosis
- Abnormality of digit
- Dislocated radial head
- Ankylosis
- Carpal synostosis
And another 9 symptoms. If you need more information about this disease we can help you.
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
Symphalangism, Proximal, 1a; Sym1a Is also known as cushing symphalangism, sym1, hereditary absence of the proximal interphalangeal joints.
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.Symphalangism, Proximal, 1a; Sym1a 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 % |
Symphalangism, Proximal, Multiple Synostoses Syndrome, Stapes Ankylosis with Broad Thumb and Toes, Tarsal-Carpal Coalition Syndrome, and Brachydactyly, Type B2 via NOG Gene Sequencing with CNV Detection.
By PreventionGenetics PreventionGenetics (United States).
NOG
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 % |
Mental Retardation and Dysmorphology - panels.
By MGZ Medical Genetics Center (Germany).
RIT1, ROR2, RPL10, RPS6KA3, RRAS, SALL1, SF3B4, SGSH, ST3GAL3, SLC16A2, BRAF, SLC6A8, SLC9A6, SNAI2, SMARCA2, SMARCA4, SMARCB1, SMARCE1, ARID1A, SMC1A , (...)
View the complete list with 322 more genes
Specificity
1 %
Genes
100 % |
Syndromal Diseases - panels.
By MGZ Medical Genetics Center (Germany).
RIT1, ROR2, RPL10, RPS6KA3, RRAS, SALL1, SF3B4, SGSH, ST3GAL3, SLC16A2, BRAF, SLC6A8, SLC9A6, SNAI2, SMARCA2, SMARCA4, SMARCB1, SMARCE1, ARID1A, SMC1A , (...)
View the complete list with 321 more genes
Specificity
1 %
Genes
100 % |
AllNeuro panel.
By Centogene AG - the Rare Disease Company (Germany).
BCS1L, ROR2, RPL10, BDNF, RPS6KA3, RTN2, RYR1, SACS, BIN1, SBF1, SCN10A, SCN1A, SCN1B, SCN2A, SCN3A, SCN4A, SCN5A, SCN8A, SCN9A, SCO1 , (...)
View the complete list with 1177 more genes
Specificity
1 %
Genes
100 % |
Brachydactyly, Type B2.
By Michigan Medical Genetics Laboratories University of Michigan (United States).
NOG
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 % |
You can get up to 27 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
OMIM Rare Disease Search EngineIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like WAARDENBURG SYNDROME, TYPE 2A; WS2A