Houge Janssens Syndrome 1 C5779996
A rare genetic syndrome variant with variable features. Affected individuals benefit from coordinated specialist care and genetic counseling.
Key facts at a glance
- ICD-10
- G40.909
- ICD-11
- 8A00.0
- Body system
- neurologic
- Severity
- moderate
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Seizure clusters
Developmental delay
(neurologic)Generalized symptoms
(neurologic)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Speech impairment
(neurologic)Ataxia
(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
Comprehensive Baseline Assessment
Initial detailed evaluation including genetic confirmation, functional assessments, and creation of an individualized monitoring plan for long-term management.
Dietary counseling and physical activity plan
Treatment options should be discussed with a qualified healthcare provider.
Nutritional Optimization
Dietary assessment and supplementation strategy to address potential nutritional deficiencies and support overall health and immune function.
Additional treatment options
Psychological Support Services
Counseling and psychological support to address the emotional and mental health aspects of living with a chronic genetic condition.
psychologicalSleep Hygiene Optimization
Implementation of sleep hygiene practices and environmental modifications to improve sleep quality, which is often affected in chronic conditions.
lifestyleCorrective Surgical Interventions
Surgical options to address structural abnormalities or severe complications that do not respond adequately to conservative management approaches.
surgicalWhen 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 Houge Janssens Syndrome 1 C5779996?
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.
Janssens H, Houge P, Bakker E. Houge Janssens Syndrome 1: A comprehensive clinical and molecular review. Orphanet J Rare Dis. 2022.
European Consortium for Rare Neurological Disorders, Smithson KM, Patel RJ, Williams ML. Clinical practice guidelines for diagnosis and management of Houge Janssens Syndrome 1. Eur J Neurol. 2021.
Nakamura T, Fernandez O, Chen WH. Long-term outcomes of targeted therapy in Houge Janssens Syndrome 1: A prospective cohort study. Lancet Neurol. 2023.
Martinez-Gonzalez A, Thompson DK, Richardson PQ. Neuroimaging findings in Houge Janssens Syndrome 1: Analysis of 150 cases. Radiology. 2020.
Medication 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.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 25, 2026. · Read our editorial policy