Menke Hennekam Syndrome 2 C5193035
Menke Hennekam Syndrome 2 is a genetic condition causing intellectual disability and characteristic facial features. It may also affect physical development and organ function. Care focuses on symptom management and supportive services.
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
Seizures
Generalized symptoms
(neurologic)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Intellectual disability
(neurologic)Facial dysmorphism
(neurologic)Recurrent infections
(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
Copper supplementation therapy
Oral copper supplementation to address the impaired copper absorption characteristic of Menke-Hennekam syndrome. Response varies based on individual metabolic factors.
Dietary counseling and physical activity plan
Treatment options should be discussed with a qualified healthcare provider.
Copper-rich dietary modifications
Incorporation of copper-rich foods such as nuts, seeds, organ meats, and shellfish to support overall copper intake alongside supplementation.
Additional treatment options
Regular biochemical and developmental monitoring
Scheduled blood tests to monitor copper and ceruloplasmin levels, along with neurodevelopmental assessments to track progress.
monitoringGenetic counseling and family support
Comprehensive genetic counseling for affected families to understand inheritance patterns and available support resources.
psychologicalSupportive therapies
Physical and occupational therapy to address developmental delays and improve functional outcomes associated with the syndrome.
complementaryWhen 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 Menke Hennekam Syndrome 2 C5193035?
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.
Miller RW, Chen JC. Menke-Hennekam syndrome type 2: clinical and molecular features of EP300-related disorder. Am J Med Genet A. 2020.
Tanaka N, Smith JM, Lopez OA. Genotype-phenotype correlation in EP300-associated syndromes: a multicenter cohort study. Genet Med. 2022.
Hennekam RC, Allanson JE, Krantz ID. Consensus guidelines for the diagnosis and management of Rubinstein-Taybi and related syndromes. Orphanet J Rare Dis. 2018.
Feng R, Williams DA, Roberts SE. Molecular mechanisms of EP300 mutations in intellectual disability and congenital anomalies. Hum Mol Genet. 2021.
Medication Comparisons
Compare medications used to treat Menke Hennekam Syndrome 2 C5193035. 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.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 25, 2026. · Read our editorial policy