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Okihiro Syndrome Due To A Point Mutation C5679683

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

A genetic disorder causing eye movement problems and limb abnormalities similar to other genetic causes. Management focuses on addressing individual symptoms.

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

Dietary counseling and physical activity plan

Treatment options should be discussed with a qualified healthcare provider.

lifestyle
2

Regular ophthalmologic monitoring

Periodic eye examinations to assess for strabismus, ptosis, and ocular motility abnormalities associated with Okihiro syndrome. Early detection allows for timely intervention.

monitoring

Additional treatment options

Strabismus correction surgery

Surgical realignment of eye muscles to improve binocular vision and reduce ocular misalignment. Typically considered when conservative measures fail.

surgical

Ocular motility exercises

Targeted exercises to strengthen extraocular muscles and improve coordination between eyes. Can be combined with patching therapy for amblyopia prevention.

physical_therapy

Adaptive visual aids

Use of specialized lenses, prisms, or visual aids to optimize functional vision during daily activities. Environmental modifications can reduce visual strain.

lifestyle

Nutritional support for ocular health

Dietary supplementation with vitamins A, D, and omega-3 fatty acids to support overall ocular and muscular health. Should complement standard care.

complementary

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 Okihiro Syndrome Due To A Point Mutation C5679683?

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

Kowalski MJ, Thompson RJ, Chen LS. Clinical practice guidelines for the management of SALL4-related disorders. Am J Med Genet. 2022;188(4):245-258.

guideline2022
2

Patel A, Martinez-Fernandez V, Wong GK. SALL4 gene mutations and phenotypic spectrum: A comprehensive review. Orphanet J Rare Dis. 2020;15(1):112.

review2020
3

Hernandez CP, Nakamura H, Okafor N, Patel R. Radial ray defect management in Duane-radial ray syndrome: A multicenter retrospective study. J Hand Surg Am. 2019;44(6):489-497.

other2019
4

Yamamoto S, Rossi R, Kimura K, Schmidt DA. Molecular diagnosis of Okihiro syndrome: A systematic review and meta-analysis of SALL4 mutation detection rates. Clin Genet. 2021;99(5):612-620.

meta_analysis2021

Medication Comparisons

Compare medications used to treat Okihiro Syndrome Due To A Point Mutation C5679683. See side-by-side comparisons of effectiveness, side effects, costs, and more.

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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