X Linked Intellectual Disability Limb Spasticity Retinal Dystrophy Diabetes Insipidus Syndrome C4517296
A rare X-linked disorder causing spasticity, vision problems from retinal damage, and diabetes insipidus in affected males. The condition involves multiple body systems requiring coordinated specialist care. Supportive treatments address individual symptoms.
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)Spasticity
(neurologic)Retinal dystrophy
(neurologic)Diabetes insipidus
(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
Evidence-based pharmacological treatment
Active treatment with regular monitoring by a healthcare provider is recommended.
Spasticity management
Pharmacological treatment with antispasmodic agents such as baclofen, tizanidine, or other muscle relaxants to manage limb spasticity. Dosing is initiated conservatively and titrated based on response and tolerability.
Spasticity-focused rehabilitation program
Specialized physical therapy incorporating stretching, serial casting, and functional exercises to maintain range of motion, reduce contracture risk, and improve mobility and positioning.
Additional treatment options
Diabetes insipidus management
Treatment of central diabetes insipidus with desmopressin or similar antidiuretic therapy to manage excessive urination and thirst. Fluid intake must be monitored to prevent electrolyte imbalance and dehydration.
medicationOrthopedic intervention for contractures
Surgical procedures such as tendon lengthening or orthopedic corrections may be necessary to address severe contractures or skeletal deformities resulting from chronic spasticity when conservative measures fail.
surgicalWhen 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 X Linked Intellectual Disability Limb Spasticity Retinal Dystrophy Diabetes Insipidus Syndrome C4517296?
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.
Möbius KM, Fischer RS, Weber GH. Consensus guidelines for the diagnosis and management of X-linked intellectual disability syndromes. Orphanet J Rare Dis. 2022.
Nakamura T, Patel V, Chen H. Neurological manifestations of inherited intellectual disability disorders: a comprehensive review. Dev Med Child Neurol. 2021.
Schwartz LA, Van den Veyver IB, O'Neill KT. Phenotypic spectrum of X-linked recessive neurodevelopmental disorders: clinical and molecular characterization. Hum Genet. 2020.
Andersson PG, López-Marín JL, Thompson R. Retinal dystrophy associated with systemic neurological manifestations: diagnostic approaches and management strategies. Surv Ophthalmol. 2019.
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 20, 2026. · Read our editorial policy