Isolated Trigonocephaly

Description

Isolated trigonocephaly is a nonsyndromic form of craniosynostosis characterized by the premature fusion of the metopic suture.

Clinical Features

Phenotypes and symptoms related to Isolated Trigonocephaly

  • Wide nasal bridge
  • Synophrys
  • Hypotelorism
  • Omphalocele
  • Prominent supraorbital ridges
  • Trigonocephaly

Incidence and onset information

— Based on the latest data available ISOLATED TRIGONOCEPHALY have a estimated birth prevalence of 6.7 per 100k worldwide.
No data available about the known clinical features onset.

Alternative names

Isolated Trigonocephaly Is also known as non-syndromic metopic craniosynostosis.

Researches and researchers

Doctors, researchs, and experts related to Isolated Trigonocephaly extracted from public data.

Isolated Trigonocephaly Experts map



Current Researchs and researchers

  • ROTTERDAM — Pr I.M.J. [Irene] MATHIJSSEN

    Coordinator of expert centre - Investigator of research project - Coordinator of expert centre network

    • Institution/s:
      — Sophia Kinderziekenhuis, Erasmus MC - Erasmus Medisch Centrum
    • Research area/topic::

      Metopic suture synostosis (trigonocephaly): prenatal detection, brain functions and optimal treatment



Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Isolated Trigonocephaly 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
50 %
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
8 %
Genes
100 %
FREM1. Complete sequencing.

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

FREM1
Specificity
100 %
Genes
50 %
Trigonocephaly 2 (sequence analysis of FREM1 gene).

By CGC Genetics (Portugal).

FREM1
Specificity
100 %
Genes
50 %
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
7 %
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
50 %
MOTA syndrome (sequence analysis of FREM1 gene).

By CGC Genetics (Portugal).

FREM1
Specificity
100 %
Genes
50 %
Fraser Syndrome Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

GRIP1, FRAS1, FREM1, FREM2
Specificity
25 %
Genes
50 %

We have 200 more panels available in our App

Get the app

Sources and references

You can check the following sources for additional information.

ORPHANET Rare Disease Search Engine

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 2; ICF2 HYPERKALEMIC PERIODIC PARALYSIS ATRIAL FIBRILLATION, FAMILIAL, 11; ATFB11 BIRK-LANDAU-PEREZ SYNDROME; BILAPES ALPHA-THALASSEMIA MYELODYSPLASIA SYNDROME; ATMDS 5Q35 MICRODUPLICATION SYNDROME

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more