Ichthyotic Keratoderma Spasticity Hypomyelination And Dysmorphic Facial Features C5193147
A complex genetic disorder affecting the skin, brain, and facial development. It causes thickened scaly skin, movement problems, and distinctive facial features. Multidisciplinary care helps manage skin symptoms, spasticity, and neurological complications.
Key facts at a glance
- ICD-10
- G40.909
- ICD-11
- 8A00.0
- Body system
- neurologic
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Generalized symptoms
(neurologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Ichthyosis
(neurologic)Keratoderma
(neurologic)Spasticity
(neurologic)Dysmorphic facial features
(neurologic)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
Dermatological management of ichthyosis and keratoderma
Topical emollients, keratolytic agents, and retinoid therapy to manage skin thickening and scaling. Regular dermatology follow-up to adjust regimens as needed.
Drug therapy and clinical monitoring
Active treatment with regular monitoring by a healthcare provider is recommended.
Spasticity and motor function management
Physical therapy interventions targeting spasticity reduction, joint mobility preservation, and functional movement optimization to address neurological manifestations.
Additional treatment options
Neurological progression assessment
Regular neurological evaluations and imaging to monitor hypomyelinization progression and assess treatment response to symptomatic interventions.
monitoringOrthopedic intervention for contractures
Surgical correction of severe contractures and skeletal deformities that develop secondary to chronic spasticity and skin involvement, improving mobility and function.
surgicalSkin care and thermal management
Daily skincare routines with appropriate moisturizers and temperature regulation strategies to manage hyperkeratosis and prevent overheating due to skin barrier dysfunction.
lifestyleWhen 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 Ichthyotic Keratoderma Spasticity Hypomyelination And Dysmorphic Facial Features C5193147?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalMedication Comparisons
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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