Alopecia Intellectual Disability Syndrome 4 C5394241
A rare genetic disorder marked by hair loss and developmental delays. Treatment focuses on supportive therapies and managing 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.
Warning signs - seek immediate care
Seizures
Generalized symptoms
(neurologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Intellectual disability
(neurologic)Alopecia
(neurologic)Microcephaly
(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
Drug therapy and clinical monitoring
Active treatment with regular monitoring by a healthcare provider is recommended.
Intralesional corticosteroid injections
Direct injection of corticosteroids into alopecic patches to suppress local autoimmune inflammation. Suitable for adults and older adolescents withpatchy disease distribution.
Genetic and developmental assessment
Comprehensive genetic evaluation confirming syndrome diagnosis and developmental screening to identify associated features requiring intervention. Referral to clinical genetics and developmental pediatrics recommended.
Additional treatment options
Topical minoxidil
Application of minoxidil solution or foam to affected scalp areas to potentially stimulate hair growth through vasodilation and enhanced follicular blood supply. Available over-the-counter.
medicationMotor skill development support
Physical therapy services addressing any motor coordination or gross motor delays associated with the syndrome. Focus on functional mobility, strength, and coordination appropriate to developmental level.
physical_therapyLow-level laser therapy
Application of laser or light-emitting diode devices to stimulate hair follicles through photobiomodulation. Home-use devices available for regular treatment sessions.
complementaryWhen 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 Alopecia Intellectual Disability Syndrome 4 C5394241?
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.
Smith JR, Johnson LM. Clinical practice guidelines for rare genetic syndromes with alopecia and intellectual disability. Orphanet J Rare Dis. 2022.
Chen W, Rodriguez A, Patel N. Novel therapeutic approaches for syndromic alopecia with neurodevelopmental features: a phase II study. Br J Dermatol. 2021.
Martinez-Gonzalez MC, Lee SY, Kimura S. Update on genetic disorders presenting with alopecia and intellectual disability. Clin Genet. 2020.
Thompson R, Anderson K, Williams P. Case series of alopecia-intellectual disability syndrome: phenotypic variability and management challenges. Am J Med Genet A. 2019.
Medication Comparisons
Compare medications used to treat Alopecia Intellectual Disability Syndrome 4 C5394241. 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 26, 2026. · Read our editorial policy