Trigonocephaly 1; Trigno1

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

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.

Genes related to Trigonocephaly 1; Trigno1

FGFR1

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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.

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 Panel complete gene list BCS1L, ROR1, SALL1, SEMA3E, SIX1, SIX5, SLC12A1, SLC19A2, SLC22A4, SNAI2, SMPX, SOX10, TBX1, TCOF1, TECTA, TFAP2A, TIMM8A, TJP2, TMPRSS3, USH1C, USH2A, CLRN1, TSPEAR, WFS1, ACTB, ESPN, CLIC5, BDP1, CDH23, CABP2, RIPOR2, CACNA1D, ACTG1, PCDH15, P2RX2, DIAPH3, ANKH, OSBPL2, ABHD12, STRC, CD151, CD164, USH1G, WHRN, OTOA, NLRP3, SLC4A11, BSND, TMC1, TRIOBP, LARS2, CDC14A, CHSY1, ADGRV1, HOMER2, CCDC50, DCDC2, GIPC3, SLC17A8, POLR1C, CLDN14, POLR1D, CHD7, CLPP, LHFPL5, EPS8L2, DIABLO, COCH, COL11A1, COL11A2, COL4A3, COL4A4, COL4A5, COL4A6, COL9A1, COL9A2, COL9A3, PNPT1, ADCY1, MYH14, SLITRK6, CRYM, CISD2, CIB2, LRTOMT, ELMOD3, PDZD7, NARS2, MARVELD2, LOXHD1, SYNE4, TPRN, OTOGL, TMEM132E, GRHL2, GSDME, ILDR1, DIAPH1, DLX5, TBC1D24, CEMIP, PJVK, DNMT1, DSPP, TMIE, MIR96, GRXCR1, S1PR2, EDN3, EDNRA, EDNRB, CEACAM16, GRXCR2, EPS8, ERCC2, ERCC3, ESRRB, EYA1, EYA4, FGF3, FGFR1, FGFR2, FGFR3, FOXI1, GATA3, ALMS1, GJB2, GJB6, HARS2, HGF, HOXB1, HSD17B4, TNC, KARS, KCNE1, KCNJ10, KCNQ1, KCNQ4, MANBA, MCM2, MET, MT-TS1, MT-TS2, MYH9, MYO15A, MYO3A, MYO6, MYO7A, NDP, NR2F1, OPA1, ATP2B2, OTOF, OTOG, ATP6V1B1, ATP6V1B2, PAX3, AIFM1, SLC26A4, PEX1, PEX6, SERPINB6, PMP22, POU3F4, POU4F3, SLC26A5, PRPS1, PTPRQ, RDX 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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