anterior segment dysgenesis | Kisho | Kisho

anterior segment dysgenesis

Rare Disease

MONDO:0019503

Also known as:

ASGDASMDASOD

A spectrum of developmental anomalies that affect the development of the anterior segment of the eyeball resulting from abnormalities of neural crest migration and differentiation during embryologic d...

Genes

Clinical Trials

2 active

Newborn Screening

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Patient Groups

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Patient-Friendly Information

Comprehensive, easy-to-understand information about this condition

How we create this content →

Feb 7, 2026

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Associated Genes

6 genes

CYP1B1 PITX3 CPAMD8 PXDN PAX6 FOXE3

Gene data from HGNC • Click to view on NCBI Gene

Associated Genes

6 genes

CYP1B1 PITX3 CPAMD8 PXDN PAX6 FOXE3

Gene data from HGNC • Click to view on NCBI Gene

Overview

anterior segment dysgenesis is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited. This condition encompasses a spectrum of developmental anomalies affecting the anterior segment of the eyeball.

Symptoms & Signs

Currently, there are no known associated genes, inheritance patterns, or specific symptoms documented for anterior segment dysgenesis. There are also no orphan drug designations under investigation for this condition. The lack of detailed clinical information highlights the need for further research.

Prognosis & Outlook

Patients and caregivers are encouraged to seek consultation with specialists experienced in ocular conditions. Genetic counseling may be beneficial, especially if there is a family history of similar conditions. Connecting with rare disease registries and online patient communities can provide additional support and resources.

Quick Resources

Helpful links for rare disease information and support

GARD (Genetic and Rare Diseases Information Center)NORD (National Organization for Rare Disorders)Find a Genetic Counselor

General Questions to Consider

Questions that may be helpful when speaking with your healthcare team

•Are there specialists or centers of excellence with experience in this condition?
•Is there a patient registry I could participate in?
•Should my family members consider genetic testing?
•What clinical trials might be available for this condition?
•Are there patient advocacy groups I should connect with?

Clinical

Associated Genes

6 genes

CYP1B1 PITX3 CPAMD8 PXDN PAX6 FOXE3

Gene data from HGNC • Click to view on NCBI Gene

Treatment

Clinical Trials

Research studies investigating treatments and therapies for this condition.

Active Trials

Total Trials

Filter trials on ClinicalTrials.gov:

View Recruiting Trials View All Trials

Data from ClinicalTrials.gov Jan 6, 2026

Support

External Resources

Orphanet

European rare disease database

Orphanet:88632

GARD

Genetic and Rare Diseases Info Center

GARD:10025

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AI-Generated Content: This summary was generated using AI. Always consult with qualified healthcare providers for medical guidance.

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anterior segment dysgenesis

Patient-Friendly Information

Associated Genes

Associated Genes

Overview

Overview

Symptoms & Signs

Prognosis & Outlook

Quick Resources

General Questions to Consider

Clinical

Associated Genes

Treatment

Clinical Trials

Support

External Resources

Orphanet

GARD

Related Diseases

Know a Patient Advocacy Group for this condition?

Need this data in your product?