Trigonocephaly 2; Trigno2

Description

Trigonocephaly occurs predominantly as a nonsyndromic craniosynostosis and has an estimated prevalence of between 1:15,000 and 1:68,000 live births (summary by Vissers et al., 2011).For a discussion of genetic heterogeneity of isolated trigonocephaly, see TRIGNO1 (OMIM ).A syndromic form of trigonocephaly is associated with monosomy for an 8-Mb interval of chromosome 9p22.3 (see {158170}).

Clinical Features

Phenotypes and symptoms related to Trigonocephaly 2; Trigno2

  • Microcephaly
  • Hypertelorism
  • Craniosynostosis
  • Trigonocephaly
  • Metopic synostosis

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 2; Trigno2 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.

Trigonocephaly 2; Trigno2 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Anophthalmia/microphthalmia.

By Medical Genetics Laboratory, Kennedy Center Juliane Marie Center, Rigshospitalet (Denmark).

BMP4, SIX6, SOX2, TFAP2A, VAX1, ALX1, PORCN, MFRP, RAX, VSX2, BCOR, COL4A1, FREM1, CRYBA4, TENM3, STRA6, FOXE3, PRSS56, ALDH1A3, GDF3 , (...)

View the complete list with 9 more genes
Specificity
4 %
Genes
100 %
Craniosynostosis.

By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center (United States).

RUNX2, SKI, TCF12, TGFBR1, TGFBR2, TWIST1, ZIC1, IFT122, RAB23, CDC45, ASXL1, WDR19, FREM1, WDR35, IFT43, EFNB1, MEGF8, ERF, FGFR1, FGFR2 , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
100 %
FREM1. Complete sequencing.

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

FREM1
Specificity
100 %
Genes
100 %
Trigonocephaly 2 (sequence analysis of FREM1 gene).

By CGC Genetics (Portugal).

FREM1
Specificity
100 %
Genes
100 %
Craniosynostosis (NGS panel for 30 genes).

By CGC Genetics (Portugal).

BMP4, SKI, TCF12, TGFBR1, TGFBR2, TWIST1, IFT122, RAB23, IRX5, TMCO1, WDR19, SCARF2, FREM1, IMPAD1, ESCO2, IFT140, WDR35, EFNB1, MEGF8, ERF , (...)

View the complete list with 10 more genes
Specificity
4 %
Genes
100 %
Microphthalmia (NGS panel for 26 genes).

By CGC Genetics (Portugal).

BMP4, SHH, SIX6, SOX2, VAX1, MFRP, RAX, NAA10, VSX2, SMOC1, CHD7, BCOR, FREM1, TENM3, STRA6, PRSS56, ALDH1A3, GDF3, GDF6, ABCB6 , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
100 %
MOTA syndrome (sequence analysis of FREM1 gene).

By CGC Genetics (Portugal).

FREM1
Specificity
100 %
Genes
100 %
Fraser Syndrome Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

GRIP1, FRAS1, FREM1, FREM2
Specificity
25 %
Genes
100 %

You can get up to 31 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Search Engine

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