Cataract Microcephaly Failure To Thrive Kyphoscoliosis Syndrome C1859312
A rare genetic syndrome causing eye clouding, small head size, poor growth, and spinal curvature. Management involves multidisciplinary care to address each symptom.
Key facts at a glance
- ICD-10
- Q02
- ICD-11
- LA00.0
- Body system
- ophthalmologic
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Congenital cataract
(ophthalmologic)Generalized symptoms
(ophthalmologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Microcephaly
(ophthalmologic)Scoliosis
(musculoskeletal)Failure to thrive in infancy
(gastrointestinal)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
Cataract extraction surgery
Surgical removal of congenital cataracts to restore vision, typically performed in infancy to prevent amblyopia and support visual development.
Drug therapy and clinical monitoring
Active treatment with regular monitoring by a healthcare provider is recommended.
Physical therapy for scoliosis management
Specialized exercises and bracing to slow scoliosis progression and maintain mobility. Includes postural training and strengthening exercises.
Additional treatment options
Scoliosis correction surgery
Spinal fusion or other corrective procedures for severe kyphoscoliosis when conservative measures fail or curve progression occurs.
surgicalNutritional support for failure to thrive
High-calorie nutritional supplementation and feeding support to achieve adequate growth and weight gain in affected children.
dietaryDevelopmental and growth monitoring
Regular multidisciplinary assessments of growth parameters, neurodevelopment, vision, and orthopedic status to guide interventions.
monitoringWhen 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 Cataract Microcephaly Failure To Thrive Kyphoscoliosis Syndrome C1859312?
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.
Martinez-Reyes JM, Thompson PW, Okonkwo CA. Clinical practice guidelines for the diagnosis and management of rare syndromes with congenital cataracts and skeletal abnormalities. Orphanet J Rare Dis. 2022.
Patel SK, Nakamura H, Van den Veyver IB. Neuro-ophthalmologic manifestations and skeletal complications in rare congenital syndromes: a comprehensive review. Surv Ophthalmol. 2021.
Chen L, Yamamoto S, Ferreira AC, Bergmann K. Longitudinal outcomes in patients with rare genetic syndromes featuring microcephaly and kyphoscoliosis: a multi-center cohort study. J Pediatr. 2020.
Kumar V, Saito Y, Williams RJ. Congenital cataract-microcephaly syndromes. In: Jones KL, Jones MC, del Campo M, eds. Smith's Recognizable Patterns of Human Malformation. 8th ed. Elsevier; 2023.
Medication Comparisons
Compare medications used to treat Cataract Microcephaly Failure To Thrive Kyphoscoliosis Syndrome C1859312. 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