Multiple Synostoses Syndrome 3; Syns3

Clinical Features

Top most frequent phenotypes and symptoms related to Multiple Synostoses Syndrome 3; Syns3

  • Cleft palate
  • Flexion contracture
  • Syndactyly
  • Proptosis
  • Craniosynostosis
  • Dolichocephaly
  • Toe syndactyly
  • Broad thumb
  • Cutaneous syndactyly
  • Cubitus valgus

And another 7 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

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.

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.

Multiple Synostoses Syndrome 3; Syns3 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
FGF9. Complete sequencing.

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

FGF9
Specificity
100 %
Genes
100 %
Selected Genetic Syndromes with skeletal involvement Panel.

By CeGaT GmbH (Germany).

SALL1, SF3B4, TBCE, TBX15, TBX3, TBX5, NIN, SALL4, PCNT, ORC6, CENPJ, CDC6, CDKN1C, CUL7, CREBBP, POC1A, CDT1, FAM111A, LARP7, CCDC8 , (...)

View the complete list with 22 more genes
Specificity
3 %
Genes
100 %
FGF9.

By Fulgent Genetics Fulgent Genetics (United States).

FGF9
Specificity
100 %
Genes
100 %
Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked.

By Bioarray (Spain).

FGF9
Specificity
100 %
Genes
100 %
SYNOSTOSIS, MULTIPLE.

By Laboratorio de Genetica Clinica SL (Spain).

FGF9, GDF5, NOG
Specificity
34 %
Genes
100 %
Multiple Synostosis Syndrome Type 3 , Sequencing FGF9 Gene.

By Reference Laboratory Genetics (Spain).

FGF9
Specificity
100 %
Genes
100 %
Multiple Synostosis Syndrome and Related Disorders , Panel Massive Sequencing (NGS) 6 Genes.

By Reference Laboratory Genetics (Spain).

TTR, FGF9, FLNB, GDF5, HOXA11, NOG
Specificity
17 %
Genes
100 %
Tempus xT assay.

By Tempus Labs, Inc. (United States).

BCL6, RIT1, BCL7A, BCR, ROS1, RPL5, RPS15, RPS6KB1, RUNX1, RXRA, BLM, SDHA, SDHB, SDHC, SDHD, SEC23B, SEMA3C, BMPR1A, SF3B1, SRSF2 , (...)

View the complete list with 555 more genes
Specificity
1 %
Genes
100 %

You can get up to 1 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

MESH OMIM Rare Disease Symptoms Checker

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like POLYDACTYLY, POSTAXIAL, TYPE A7; PAPA7 KENNY-CAFFEY SYNDROME, TYPE 2; KCS2 ALKAPTONURIA; AKU DYSTONIA 12; DYT12 INFANTILE LIVER FAILURE SYNDROME 2; ILFS2 THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE); THMD5 ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY TYPE 1