Keratosis Follicularis Dwarfism Cerebral Atrophy Syndrome C1839910
A rare genetic syndrome featuring skin bumps, short stature, and brain abnormalities. It affects children and requires multidisciplinary care to address various 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
Intellectual disability
(neurologic)Growth retardation
(neurologic)Ataxia
(neurologic)Cerebral atrophy
(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
Targeted drug therapy with dose adjustment
Active treatment with regular monitoring by a healthcare provider is recommended.
Topical Keratolytics for Follicular Keratosis
Application of topical treatments containing urea, alpha-hydroxy acids, or salicylic acid to reduce follicular plugging and improve skin texture.
Anticonvulsant Therapy for Seizures
Antiepileptic medications tailored to seizure type and severity to manage seizure activity associated with cerebral atrophy in this syndrome.
Additional treatment options
Developmental Physical Therapy
Specialized therapeutic exercises and interventions addressing motor delays, muscle tone abnormalities, and functional limitations from dwarfism and cerebral atrophy.
physical_therapyNeuropsychological Support
Cognitive assessment and development of individualized educational and behavioral support plans to address learning difficulties and cognitive impairment.
psychologicalMultisystem Surveillance Program
Coordinated monitoring of growth parameters, neurologic status, skin manifestations, and developmental milestones through regular specialist evaluations.
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 Keratosis Follicularis Dwarfism Cerebral Atrophy Syndrome C1839910?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalMedication Comparisons
Compare medications used to treat Keratosis Follicularis Dwarfism Cerebral Atrophy Syndrome C1839910. 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