Multiple Synostoses Syndrome 1; Syns1

Description

Multiple synostoses syndrome is characterized by multiple joint fusions, usually commencing in the hands, conductive deafness, and characteristic facial features, including a broad, tubular-shaped nose and a thin upper vermilion. Other features include brachydactyly, hypoplastic or absent middle phalanges, radial head dislocation, and pectus carinatum (summary by Takahashi et al., 2001). Genetic Heterogeneity of Multiple Synostoses SyndromeOther forms of multiple synostoses syndrome include SYNS2 (OMIM ), caused by mutation in the GDF5 gene (OMIM ) on chromosome 20q11.2, and SYNS3 (OMIM ), caused by mutation in the FGF9 gene (OMIM ) on chromosome 13q11-q12.

Clinical Features

Top most frequent phenotypes and symptoms related to Multiple Synostoses Syndrome 1; Syns1

  • Hearing impairment
  • Scoliosis
  • Strabismus
  • Epicanthus
  • Brachydactyly
  • Pectus excavatum
  • Pes cavus
  • Clinodactyly
  • Conductive hearing impairment
  • Thin upper lip vermilion
And another 68 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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Multiple Synostoses Syndrome 1; Syns1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
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
2 %
Genes
100 %
Symphalangism, Proximal, Multiple Synostoses Syndrome, Stapes Ankylosis with Broad Thumb and Toes, Tarsal-Carpal Coalition Syndrome, and Brachydactyly, Type B2 via the NOG Gene.

By PreventionGenetics PreventionGenetics in United States.

NOG
Specificity
100 %
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 %
Mental Retardation and Dysmorphology - panels.

By MGZ Medical Genetics Center in Germany.

FMR1, UBE3A, PTEN, RECQL4, AGL, ATP7A, GAA, LRP5, SLC37A4, GNPTAB, GLB1, HSD17B10, OCRL, JAG1, NDP, HPRT1, NHS, RAF1, SMPD1, MECP2 , (...)

View the complete list with 323 more genes
Specificity
1 %
Genes
100 %
Syndromal Diseases - panels.

By MGZ Medical Genetics Center in Germany.

FMR1, UBE3A, PTEN, RECQL4, AGL, ATP7A, GAA, LRP5, SLC37A4, GNPTAB, GLB1, HSD17B10, OCRL, JAG1, NDP, HPRT1, NHS, RAF1, SMPD1, MECP2 , (...)

View the complete list with 322 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 %
Brachydactyly, Type B2.

By Michigan Medical Genetics Laboratories University of Michigan in 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 in Germany.

TRPV4, GLI3, TP63, BMPR1B, GJA1, HOXA11, ROR2, WNT7A, LRP4, HOXD13, PTHLH, GDF5, WNT10B, BMP2, BHLHA9, IHH, FBLN1, NOG, LMBR1, FGF16
Specificity
5 %
Genes
100 %
Brachydactyly B2.

By Praxis fuer Humangenetik Wien in Austria.

NOG
Specificity
100 %
Genes
100 %
Brachydactyly B2.

By Praxis fuer Humangenetik Wien in Austria.

NOG
Specificity
100 %
Genes
100 %
Multiple synostosis syndrome 1.

By Praxis fuer Humangenetik Wien in Austria.

NOG
Specificity
100 %
Genes
100 %
Stapes ankylosis with broad thumb and toes.

By Praxis fuer Humangenetik Wien in Austria.

NOG
Specificity
100 %
Genes
100 %
Tarsal-carpal coalition syndrome.

By Praxis fuer Humangenetik Wien in Austria.

NOG
Specificity
100 %
Genes
100 %
Symphalangism, proximal.

By Praxis fuer Humangenetik Wien in Austria.

NOG
Specificity
100 %
Genes
100 %
qGenEx Craniofacial Anomalies.

By Quantitative Genomic Medicine Laboratories, SL in Spain.

RECQL4, EYA1, COL2A1, PAX6, FOXC1, PITX2, OTX2, SHH, DHODH, BCOR, CTSK, FGFR3, CHD7, GJB6, IKBKG, PORCN, RUNX2, FGFR2, RAD21, SMC3 , (...)

View the complete list with 116 more genes
Specificity
1 %
Genes
100 %
Brachydactyly B2.

By MedGene in Slovakia.

NOG
Specificity
100 %
Genes
100 %
Multiple synostosis syndrome 1.

By MedGene in Slovakia.

NOG
Specificity
100 %
Genes
100 %
Tarsal-carpal coalition syndrome.

By MedGene in Slovakia.

NOG
Specificity
100 %
Genes
100 %
Stapes ankylosis with broad thumb and toes.

By MedGene in Slovakia.

NOG
Specificity
100 %
Genes
100 %
Symphalangism, proximal.

By MedGene in Slovakia.

NOG
Specificity
100 %
Genes
100 %
Brachydactyly type B2: NOG gene sequence analysis.

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

NOG
Specificity
100 %
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
3 %
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
1 %
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
1 %
Genes
100 %
NOG.

By Fulgent Genetics Fulgent Genetics in United States.

NOG
Specificity
100 %
Genes
100 %
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
5 %
Genes
100 %
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
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
1 %
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 B2.

By Bioarray in Spain.

NOG
Specificity
100 %
Genes
100 %
BRACHYDACTYLY TYPE B2.

By Laboratorio de Genetica Clinica SL in Spain.

NOG
Specificity
100 %
Genes
100 %
SYNOSTOSIS, MULTIPLE.

By Laboratorio de Genetica Clinica SL in Spain.

GDF5, FGF9, NOG
Specificity
34 %
Genes
100 %
Brachydactyly Type B2, Sequencing NOG Gene.

By Reference Laboratory Genetics in Spain.

NOG
Specificity
100 %
Genes
100 %
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
100 %
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
6 %
Genes
100 %

Alternate names

Multiple Synostoses Syndrome 1; Syns1 Is also known as synostoses, multiple, with brachydactyly, symphalangism-brachydactyly syndrome, wl syndrome, deafness-symphalangism syndrome of herrmann, facioaudiosymphalangism syndrome;brachydactyly-symphalangism syndrome.



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