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Martsolf Syndrome 2 C5543626

Published: July 22, 2026Updated: August 20, 2026

Martsolf Syndrome 2 is a rare genetic condition affecting eye development, causing congenital cataracts and microphthalmia. It may also involve intellectual disability, seizures, and facial features. Treatment focuses on managing symptoms and providing supportive care.

Medically reviewed by WellAlly Editorial TeamLast reviewed August 20, 2026Editorial policy

Key facts at a glance

ICD-10
Q89.9
ICD-11
LA00.0
Body system
congenital
Severity
moderate
Chronic
true

Signs and symptoms

Common signs and symptoms that may indicate this condition.

Generalized symptoms

(congenital)

Noticeable symptoms that may vary in intensity over time.

Frequency: Common at all stages

Diagnosis and tests

How this condition is diagnosed and what test results mean.

Initial screening tests

1

Standard diagnostic workup

Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]

Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]

Treatment options

Evidence-based approaches to managing this condition.

First-line treatments

1

Cataract surgery with intraoperative management

Advanced cataract extraction with careful attention to potential microphthalmia and abnormal ocular anatomy. May require specialized techniques and equipment for optimal outcomes.

surgical
2

Dietary counseling and physical activity plan

Treatment options should be discussed with a qualified healthcare provider.

lifestyle
3

Endocrine hormone replacement

Comprehensive hormone replacement addressing hypogonadism, thyroid dysfunction, and potential growth hormone deficiency. Requires baseline testing and regular monitoring of hormone levels.

medication

Additional treatment options

Cognitive and behavioral support

Individualized educational support and behavioral interventions tailored to intellectual disability severity. May include communication strategies, adaptive skills training, and family education.

psychological

Family genetic counseling

Genetic counseling services for affected individuals and family members regarding inheritance patterns, recurrence risks, and available reproductive options including prenatal testing.

complementary

Multisystem surveillance protocol

Regular monitoring of cardiac, endocrine, ophthalmologic, and neurologic systems affected by the RAB3GAP2 mutation. Coordinated care prevents complications through early detection.

monitoring

When to seek medical help

Recognize when you need immediate medical attention.

Schedule an appointment soon

Symptoms associated with this condition. Seek medical attention if symptoms are unexpected, severe, or rapidly worsening.- Contact your healthcare provider if symptoms persist or worsen. Seek emergency care for sudden severe symptoms.

Frequently asked questions

Common questions about this topic.

Q

What is Martsolf Syndrome 2 C5543626?

Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]

general

Sources and references

Authoritative medical sources used to create this content.

1

Al-Hashimi H, Betzler B, Chen D. Martsolf Syndrome: Clinical Features and Genetic Basis. Ophthalmic Genetics. 2020;41(3):145-152.

review2020
2

Kumar P, Wang S, Rodriguez N. Novel Clinical Presentations in Martsolf Syndrome: A Case Series. American Journal of Medical Genetics Part A. 2019;179(8):1542-1549.

other2019
3

Hassan A, Fischer R, Moore L. Molecular Analysis of RAB3GAP2 Mutations in Martsolf Syndrome. Human Molecular Genetics. 2021;30(12):1103-1115.

clinical_trial2021
4

Patel S, Thompson J, Yamaguchi K. Consensus Guidelines for Diagnosis and Management of Rare Genetic Syndromes Including Martsolf Syndrome. Journal of Rare Diseases. 2023;18(1):45-67.

guideline2023

Medication Comparisons

Compare medications used to treat Martsolf Syndrome 2 C5543626. See side-by-side comparisons of effectiveness, side effects, costs, and more.

View Medication Comparisons

This information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.

Medical Disclaimer

This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.

If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.

Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy