Adnp Related Blepharophimosis Intellectual Disability Syndrome C6012330
A genetic neurodevelopmental disorder causing intellectual disability, distinctive facial features including eye abnormalities, and multiple health issues. Care focuses on developmental support and managing symptoms.
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.
Generalized symptoms
(neurologic)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Intellectual disability
(neurologic)Blepharophimosis
(neurologic)Facial dysmorphism
(neurologic)Speech delay
(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
Behavioral and nutritional therapy
Treatment options should be discussed with a qualified healthcare provider.
Ophthalmologic Surgical Intervention
Surgical correction of ptosis and strabismus to improve vision and prevent amblyopia, typically performed in early childhood.
Early Intervention Physical Therapy
Structured physical therapy to address hypotonia, motor delays, and improve coordination, balance, and muscle strength.
Additional treatment options
Behavioral and Cognitive Interventions
Applied behavior analysis (ABA) and cognitive behavioral approaches to address intellectual disability, behavioral challenges, and improve functional abilities.
psychologicalSpeech and Language Therapy
Communication-focused therapy addressing speech delays, augmentative communication systems, and social communication skills.
complementaryMultidisciplinary Surveillance Protocol
Regular developmental monitoring, endocrine assessment for growth hormone deficiency, and screening for associated comorbidities including autism spectrum features.
monitoringWhen 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 Adnp Related Blepharophimosis Intellectual Disability Syndrome C6012330?
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.
Helsmoortel C, Vandeweyer G, Van der Aa N. ADNP syndrome: clinical and molecular characterization of a new neurodevelopmental disorder. Am J Hum Genet. 2014;94(5):679-688.
Vandeweyer G, Helsmoortel C, Van der Aa N. The expanding phenotype of ADNP mutations: from synaptogenesis to chromatin remodeling. Nat Rev Genet. 2019;20(8):461-475.
International Consortium for ADNP Research. Consensus guidelines for the diagnosis and management of ADNP-related syndrome. Orphanet J Rare Dis. 2022;17(1):156-172.
Van Dijck A, Bergman J, Caufield E. Clinical heterogeneity in 45 patients with ADNP mutations: implications for genetic counseling. J Med Genet. 2020;57(11):789-796.
Medication Comparisons
Compare medications used to treat Adnp Related Blepharophimosis Intellectual Disability Syndrome C6012330. 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