Trigonocephaly 1; Trigno1

Description

Individuals with trigonocephaly have a keel-shaped forehead with wide biparietal diameter, resulting in a triangular shape of the head. Trigonocephaly results from premature closure of the metopic sutures and usually occurs sporadically (summary by Frydman et al., 1984). Genetic Heterogeneity of Isolated TrigonocephalyAlso see trigonocephaly-2 (TRIGNO2 ), caused by mutation in the FREM1 gene (OMIM ) on chromosome 9p22.

Clinical Features

Top most frequent phenotypes and symptoms related to Trigonocephaly 1; Trigno1

  • Microcephaly
  • Craniosynostosis
  • Synophrys
  • Hypotelorism
  • Omphalocele
  • Abnormality of the genital system
  • Preauricular skin tag
  • Trigonocephaly
  • Mild microcephaly
  • Long penis

And another 2 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

Trigonocephaly 1; Trigno1 Is also known as craniosynostosis, metopic.

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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Trigonocephaly 1; Trigno1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
FGFR1 DNA Sequencing Test.

By Athena Diagnostics Inc (United States).

FGFR1
Specificity
100 %
Genes
100 %
Normosmic Kallmann/IHH Evaluation.

By Athena Diagnostics Inc (United States).

TACR3, PROKR2, PROK2, FGFR1, GNRH1, GNRHR, KISS1R
Specificity
15 %
Genes
100 %
Anosmic Kallmann/IHH Evaluation.

By Athena Diagnostics Inc (United States).

PROKR2, PROK2, FGF8, FGFR1, GNRHR, KISS1R, ANOS1
Specificity
15 %
Genes
100 %
Complete Kallmann/IHH Evaluation.

By Athena Diagnostics Inc (United States).

TACR3, PROKR2, PROK2, CHD7, FGF8, FGFR1, GNRH1, GNRHR, KISS1R, ANOS1
Specificity
10 %
Genes
100 %
Hearing Loss Advanced Sequencing and CNV Evaluation.

By Athena Diagnostics Inc (United States).

BCS1L, ROR1, SALL1, SEMA3E, SIX1, SIX5, SLC12A1, SLC19A2, SLC22A4, SNAI2, SMPX, SOX10, TBX1, TCOF1, TECTA, TFAP2A, TIMM8A, TJP2, TMPRSS3, USH1C , (...)

View the complete list with 149 more genes
Specificity
1 %
Genes
100 %
NGS Craniosynostosis Panel.

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

TWIST1, RAB23, FGFR1, FGFR2, MSX2, POR, RECQL4
Specificity
15 %
Genes
100 %
FGFR1-Related Disorders - FGFR1 Sequencing.

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

FGFR1
Specificity
100 %
Genes
100 %
FGFR1-Related Disorders - Del/Dup Analysis.

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

FGFR1
Specificity
100 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

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