Craniosynostosis 1; Crs1

Description

Craniosynostosis is a primary abnormality of skull growth involving premature fusion of the cranial sutures such that the growth velocity of the skull often cannot match that of the developing brain. This produces skull deformity and, in some cases, raises intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability (summary by Fitzpatrick, 2013). Mutation in the TWIST1 has been found to cause coronal and sagittal forms of craniosynostosis. Genetic Heterogeneity of CraniosynostosisCraniosynostosis-2 (CRS2 ) is caused by mutation in the MSX2 gene (OMIM ) on chromosome 5q. Craniosynostosis-3 (CRS3 ) is caused by mutation in the TCF12 gene (OMIM ) on chromosome 15q21. Craniosynostosis-4 (CRS4 ) is caused by mutation in the ERF gene (OMIM ) on chromosome 19q13. Susceptibility to craniosynostosis-5 (CRS5 ) is conferred by variation in the ALX4 gene (OMIM ) on chromosome 7p21. Craniosynostosis-6 (CRS6 ) is caused by mutation in the ZIC1 gene (OMIM ) on chromosome 3q24. Susceptibility to craniosynostosis-7 (CRS7 ) is conferred by variation in the SMAD6 gene (OMIM ) on chromosome 15q22.

Clinical Features

Top most frequent phenotypes and symptoms related to Craniosynostosis 1; Crs1

  • Intellectual disability
  • Seizures
  • Micrognathia
  • Blindness
  • Clinodactyly
  • Proptosis
  • Telecanthus
  • Craniosynostosis
  • Dolichocephaly
  • Rickets

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

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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

Craniosynostosis 1; Crs1 Is also known as crs, craniostenosis.

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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Craniosynostosis 1; Crs1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
NGS Craniosynostosis Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

TWIST1, RAB23, FGFR1, FGFR2, MSX2, POR, RECQL4
Specificity
15 %
Genes
50 %
Saethre-Chotzen syndrome.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

TWIST1
Specificity
100 %
Genes
50 %
Saethre-Chotzen Syndrome - TWIST1 Sequencing.

By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado (United States).

TWIST1
Specificity
100 %
Genes
50 %
Test for Saethre-Chotzen Syndrome.

By Genome Diagnostics Laboratory University Medical Center Utrecht (Netherlands).

TWIST1
Specificity
100 %
Genes
50 %
Saethre-Chotzen Syndrome.

By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital (United States).

TWIST1, FGFR2, FGFR3
Specificity
34 %
Genes
50 %
Saethre-Chotzen Syndrome - Twist Gene Analysis.

By Center for Genetics at Saint Francis Saint Francis Hospital (United States).

TWIST1
Specificity
100 %
Genes
50 %
Craniodysmorphology Panel (FGFR1,2,3,TWIST).

By Center for Genetics at Saint Francis Saint Francis Hospital (United States).

TWIST1, FGFR2
Specificity
50 %
Genes
50 %
Craniosynostosis.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

SKI, TGFBR1, TGFBR2, TWIST1, IFT122, RAB23, ASXL1, WDR19, WDR35, IFT43, EFNB1, FBN1, FGFR1, FGFR2, FGFR3, GLI3, ALPL, ALX4, IL11RA, MASP1 , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
50 %

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Sources and references

You can check the following sources for additional information.

ORPHANET OMIM Rare Disease Search Engine

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