Okihiro Syndrome Due To 20q13 Microdeletion C5679682
A genetic condition causing abnormal eye development and limb differences, including thumb anomalies. Treatment depends on specific symptoms and may include surgery.
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
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
Audiological Surveillance Program
Regular hearing evaluations to monitor for progressive hearing loss associated with Okihiro syndrome. Early identification allows for timely intervention with hearing aids or other assistive devices.
Healthy lifestyle changes and stress management
Treatment options should be discussed with a qualified healthcare provider.
Eye Muscle Surgery for Duane Syndrome
Surgical correction of abnormal eye movements and compensatory head postures in Duane syndrome. Procedures aim to improve ocular alignment and reduce anomalous head positioning.
Additional treatment options
Upper Limb Rehabilitation
Therapy addressing radial ray abnormalities including hand function, grip strength, and fine motor skills. May include splinting, stretching, and functional training.
physical_therapyHand Reconstruction Surgery
Corrective hand surgery for thumb abnormalities, syndactyly, or other radial ray defects. Procedures may include tendon transfers, bone reconstruction, or pollicization.
surgicalDevelopmental and Social Support
Psychological services supporting patients through body image concerns, social challenges, and coping with chronic condition management. May include individual and family counseling.
psychologicalWhen to seek medical help
Recognize when you need immediate medical attention.
Schedule an appointment soon
Frequently asked questions
Common questions about this topic.
What is Okihiro Syndrome Due To 20q13 Microdeletion C5679682?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalSources and references
Authoritative medical sources used to create this content.
Kohlhase J, Chitayat D, Kotzot D, et al. SALL4 mutations in Okihiro syndrome and related disorders. Mol Genet Genomic Med. 2018.
International Consortium for Rare Disease Research. Practice guidelines for genetic evaluation of Okihiro syndrome. Orphanet J Rare Dis. 2022.
Alvarado DM, McCall K, Bamshad MJ. Phenotypic spectrum of 20q13 microdeletion including SALL4: case series and literature review. Am J Med Genet A. 2019.
Vasquez JC, Hennekam RC, de Jong P. Duane retraction syndrome and radial ray malformations: molecular insights into Okihiro syndrome pathophysiology. Clin Genet. 2020.
Medication Comparisons
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy