Oculotrichoanal Syndrome

Description

Oculotrichoanal syndrome is a form of rare, multiple congenital anomalies/dysmorphic syndrome characterized by a combination of various nose, eye, gastrointestinal and genitourinary abnormalities. Clinical presentation is variable and often includes bifid and broad nasal tip, aberrant anterior hairline, coloboma, cryptophthalmos or unilateral anophthalmia, anal anomalies, and omphalocele. Intelligence and global development is normal.

Clinical Features

Top most frequent phenotypes and symptoms related to Oculotrichoanal Syndrome

  • Hypertelorism
  • High palate
  • Wide nasal bridge
  • Microphthalmia
  • Narrow mouth
  • High forehead
  • Thin upper lip vermilion
  • Coloboma
  • Short philtrum
  • Corneal opacity

And another 20 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

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

Oculotrichoanal Syndrome Is also known as mota syndrome, marles syndrome, manitoba oculotrichoanal syndrome, marles-greenberg-persaud syndrome.

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.


Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Oculotrichoanal Syndrome 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 %

We have 31 more panels available in our App

Get the app

Sources and references

You can check the following sources for additional information.

MESH ORPHANET OMIM Genetic Syndrome Finder

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like USHER SYNDROME, TYPE ID; USH1D PAPILLOMA OF CHOROID PLEXUS MUSCULAR DYSTROPHY, CONGENITAL, MEGACONIAL TYPE; MDCMC CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J; CMT4J GM2-GANGLIOSIDOSIS, AB VARIANT PALMOPLANTAR KERATODERMA, BOTHNIAN TYPE; PPKB

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more