Anterior Segment Dysgenesis 8; Asgd8

Description

Anterior segment dysgeneses (ASGD or ASMD) are a heterogeneous group of developmental disorders affecting the anterior segment of the eye, including the cornea, iris, lens, trabecular meshwork, and Schlemm canal. The clinical features of ASGD include iris hypoplasia, an enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, an abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface (summary by Cheong et al., 2016).

Clinical Features

Top most frequent phenotypes and symptoms related to Anterior Segment Dysgenesis 8; Asgd8

  • Cataract
  • Ectopia lentis
  • Ectropion
  • Posterior embryotoxon
  • Hypoplasia of the iris
  • Ectopia pupillae
  • Corneal neovascularization
  • Anterior segment developmental abnormality
  • Anterior synechiae of the anterior chamber
  • Polycoria

And another 6 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.

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

Anterior Segment Dysgenesis 8; Asgd8 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
CPAMD8.

By Fulgent Genetics Fulgent Genetics (United States).

CPAMD8
Specificity
100 %
Genes
100 %

We have -7 more panels available in our App

Get the app

Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC; EPPK ZIMMERMANN-LABAND SYNDROME 1; ZLS1 ENHANCED S-CONE SYNDROME; ESCS TYROSINEMIA, TYPE I; TYRSN1 16Q24.3 MICRODELETION SYNDROME CHONDRODYSPLASIA-PSEUDOHERMAPHRODITISM SYNDROME BLOOD GROUP, I SYSTEM; Ii

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more