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.
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 moreSources and references
You can check the following sources for additional information.
MESH OMIM Rare Disease Symptoms CheckerIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS; IDDDFP NEONATAL MARFAN SYNDROME ALVEOLAR SOFT PART SARCOMA; ASPS NEUROPATHY, HEREDITARY MOTOR AND SENSORY, OKINAWA TYPE; HMSNO CEREBRAL DYSGENESIS, NEUROPATHY, ICHTHYOSIS, AND PALMOPLANTAR KERATODERMA SYNDROME MUCOPOLYSACCHARIDOSIS, TYPE IIIC; MPS3C POLYCYSTIC LIVER DISEASE 1; PCLD1