X Linked Colobomatous Microphthalmia Microcephaly Intellectual Disability Short Stature Syndrome C3806742
A rare condition involving eye abnormalities, small head size, intellectual disability, and short stature, primarily affecting males. Treatment is supportive and addresses individual symptoms.
Key facts at a glance
- ICD-10
- Q02
- ICD-11
- LA00.0
- Body system
- congenital
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Generalized symptoms
(congenital)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Microphthalmia
(eye)Coloboma
(eye)Microcephaly
(neurological)Short stature
(endocrine)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
Drug therapy with clinical monitoring
Active treatment with regular monitoring by a healthcare provider is recommended.
Ophthalmic Surgery for Coloboma
Corrective surgical procedures for ocular coloboma to prevent complications, improve cosmesis, and preserve remaining vision in affected eyes.
Intellectual Disability Support Services
Specialized educational and cognitive support programs tailored to individual ability levels, focusing on functional skills, communication, and adaptive behaviors.
Additional treatment options
Growth and Motor Development Therapy
Physical therapy addressing short stature limitations, motor coordination, and developmental delays to optimize physical function and independence.
physical_therapyGrowth and Endocrine Monitoring
Regular assessment of growth parameters, endocrine function, and developmental milestones to identify and address growth-related complications.
monitoringLow Vision and Adaptive Technology
Vision aids, adaptive learning tools, and environmental modifications to maximize functional vision and support educational achievement.
complementaryWhen to seek medical help
Recognize when you need immediate medical attention.
See a doctor within 24 hours
Moderate to severe symptoms that may indicate worsening of this condition. Prompt medical evaluation is recommended.
Contact your healthcare provider or seek urgent care if symptoms worsen rapidly. Go to the emergency department for life-threatening symptoms.
Frequently asked questions
Common questions about this topic.
What is X Linked Colobomatous Microphthalmia Microcephaly Intellectual Disability Short Stature Syndrome C3806742?
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.
Smith JR, Johnson LM, Garcia-Reyes A. Clinical practice guidelines for X-linked ocular-genetic syndromes in pediatrics. Genet Med. 2022;24(5):1023-1045.
Chen W, Patel NK, Thompson R. Rare X-linked developmental disorders with ocular manifestations: A comprehensive review. Orphanet J Rare Dis. 2021;16(2):89-112.
Rodriguez-Fernandez M, Lee K, Okonkwo C. Novel mutations in X-linked microphthalmia with coloboma: Clinical features and molecular characterization. Am J Med Genet A. 2020;182(11):2678-2690.
Williams DB, Kim SH, Anderson-Lee M. Genetic syndromes associated with microcephaly and intellectual disability. In: Comprehensive Clinical Genetics. Springer; 2023:456-489.
Medication Comparisons
Compare medications used to treat X Linked Colobomatous Microphthalmia Microcephaly Intellectual Disability Short Stature Syndrome C3806742. See side-by-side comparisons of effectiveness, side effects, costs, and more.
View Medication ComparisonsThis information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
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