Hyperphosphatasia With Intellectual Disability Syndrome 5 C4014958
A rare genetic disorder causing high blood alkaline phosphatase levels, intellectual disability, and distinctive facial features. Treatment focuses on managing symptoms and supporting development.
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
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
Combination drug regimen with regular assessment
Active treatment with regular monitoring by a healthcare provider is recommended.
Motor Development Therapy
Early intervention physical therapy focusing on improving strength, balance, and coordination to maximize functional mobility and independence.
Applied Behavior Analysis
ABA-based interventions for skill building and behavioral management, adapted for individual cognitive level and specific behavioral challenges.
Additional treatment options
Neurodevelopmental Assessment
Periodic comprehensive neurodevelopmental evaluations to track progress, adjust interventions, and identify emerging needs.
monitoringOccupational Therapy
Occupational therapy focusing on fine motor skills, activities of daily living, and sensory integration to improve functional independence.
complementaryBone-Healthy Nutrition
Dietary optimization with adequate calcium, phosphorus balance, and vitamin D to support skeletal health in the context of elevated alkaline phosphatase.
dietaryWhen 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 Hyperphosphatasia With Intellectual Disability Syndrome 5 C4014958?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalMedication Comparisons
Compare medications used to treat Hyperphosphatasia With Intellectual Disability Syndrome 5 C4014958. 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 27, 2026. · Read our editorial policy