Multiple Synostoses Syndrome

Description

Multiple synostoses syndrome (MSS) is a rare developmental bone disorder characterized by proximal symphalangism of the fingers and/or toes often associated with fusion of carpal and tarsal, humeroradial, and cervical spine joints.

Clinical Features

Phenotypes and symptoms related to Multiple Synostoses Syndrome

  • Brachydactyly
  • Conductive hearing impairment
  • Joint stiffness
  • Facial asymmetry
  • Short palm
  • Broad thumb
  • Abnormality of the nail
  • Bilateral single transverse palmar creases
  • Cone-shaped epiphysis
  • Symphalangism affecting the phalanges of the hand

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

Multiple Synostoses Syndrome Is also known as wl syndrome, facio-audio-symphalangism, symphalangism-brachydactyly syndrome, deafness-hermann type symphalangism syndrome.

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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Multiple Synostoses Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
GDF5. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

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

By CGC Genetics (Portugal).

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

By CGC Genetics (Portugal).

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

By CGC Genetics (Portugal).

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

By CGC Genetics (Portugal).

GDF5
Specificity
100 %
Genes
34 %
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
3 %
Genes
67 %
GDF5-related Disorders via GDF5 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

GDF5
Specificity
100 %
Genes
34 %
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
67 %

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Sources and references

You can check the following sources for additional information.

ORPHANET Rare Disease Symptoms Checker

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