Ritscher-Schinzel syndrome 3 | Kisho | Kisho

Ritscher-Schinzel syndrome 3

Rare Disease

MONDO:0030864

Also known as:

RTSC3Ritscher-Schinzel syndrome 3

Genes

Clinical Trials

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Newborn Screening

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Patient Groups

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Patient-Friendly Information

Comprehensive, easy-to-understand information about this condition

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Last reviewed: Feb 2026

Evidence base: Developing

This report reflects available clinical information. Some areas may remain under active research.(5 data sources · Data coverage: Moderate)

Overview

Ritscher-Schinzel syndrome 3, also known as RTSC3, is a rare condition. While detailed descriptions of the disorder are limited, it is recognized in the medical literature with an OMIM entry (OMIM:619135) and is linked to genetic research. This condition has been associated with changes in the VPS35L gene. Information about its full clinical spectrum and history is not extensively available at this time, so understanding of the condition remains under development.

Symptoms & Signs

Information about symptoms is currently limited for this condition.

Causes & Risk Factors

Ritscher-Schinzel syndrome 3 has been linked to alterations in the VPS35L gene. However, specific details on the genetic changes, inheritance patterns, and other risk factors are not well documented.

Treatment & Management

Information about treatment is currently limited for this condition.

Prognosis & Outlook

Information about prognosis is currently limited for this condition.

Research & Clinical Trials

Current research on Ritscher-Schinzel syndrome 3 is limited. Continued genetic studies, especially those focusing on the VPS35L gene, may improve understanding in the future.

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?

This report reflects available clinical information. Some areas may remain under active research.(5 data sources · Data coverage: Moderate)

Overview

Symptoms & Signs

Information about symptoms is currently limited for this condition.

Causes & Risk Factors

Ritscher-Schinzel syndrome 3 has been linked to alterations in the VPS35L gene. However, specific details on the genetic changes, inheritance patterns, and other risk factors are not well documented.

Treatment & Management

Information about treatment is currently limited for this condition.

Prognosis & Outlook

Information about prognosis is currently limited for this condition.

Research & Clinical Trials

Current research on Ritscher-Schinzel syndrome 3 is limited. Continued genetic studies, especially those focusing on the VPS35L gene, may improve understanding in the future.

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?

Overview

This report reflects available clinical information. Some areas may remain under active research.(5 data sources · Data coverage: Moderate)

Overview

Symptoms & Signs

Information about symptoms is currently limited for this condition.

Causes & Risk Factors

Ritscher-Schinzel syndrome 3 has been linked to alterations in the VPS35L gene. However, specific details on the genetic changes, inheritance patterns, and other risk factors are not well documented.

Treatment & Management

Information about treatment is currently limited for this condition.

Prognosis & Outlook

Information about prognosis is currently limited for this condition.

Research & Clinical Trials

Current research on Ritscher-Schinzel syndrome 3 is limited. Continued genetic studies, especially those focusing on the VPS35L gene, may improve understanding in the future.

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

1 gene

VPS35L

Gene data from HGNC • Click to view on NCBI Gene

Inheritance Pattern

Autosomal Recessive

Inheritance patterns describe how genetic conditions are passed from parents to children.

Age of Onset

Childhood (1-5 Years)

Age of onset indicates when symptoms typically first appear.

Treatment

Support

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:619135

GARD

Genetic and Rare Diseases Info Center

GARD:16426

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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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Ritscher-Schinzel syndrome 3

Patient-Friendly Information

Overview

Symptoms & Signs

Causes & Risk Factors

Treatment & Management

Prognosis & Outlook

Research & Clinical Trials

Quick Resources

General Questions to Consider

Overview

Symptoms & Signs

Causes & Risk Factors

Treatment & Management

Prognosis & Outlook

Research & Clinical Trials

Quick Resources

General Questions to Consider

Overview

Overview

Symptoms & Signs

Causes & Risk Factors

Treatment & Management

Prognosis & Outlook

Research & Clinical Trials

Quick Resources

General Questions to Consider

Clinical

Associated Genes

Inheritance Pattern

Age of Onset

Treatment

Support

External Resources

OMIM

GARD

Related Diseases

Know a Patient Advocacy Group for this condition?

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