Menke Hennekam Syndrome 1 C5193034
Menke Hennekam Syndrome 1 is a rare genetic disorder affecting multiple body systems. It causes developmental delays, distinctive facial features, and sometimes skeletal abnormalities. Treatment involves managing symptoms with supportive therapies and regular monitoring.
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
Developmental delay
(neurologic)Microcephaly
(neurologic)Hearing loss
(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
Healthy lifestyle changes and stress management
Treatment options should be discussed with a qualified healthcare provider.
Multidisciplinary Specialist Surveillance
Regular coordinated care involving neurologists, geneticists, gastroenterologists, and developmental specialists to monitor disease progression and manage multiple system involvement.
Developmental Physical Therapy
Early intervention therapy focusing on gross motor skills, coordination, balance, and strength. Addresses hypotonia and motor delays common in the syndrome through age-appropriate exercises.
Additional treatment options
Developmental and Behavioral Support
Individualized interventions addressing cognitive development, behavioral challenges, and learning differences. Includes applied behavior analysis when indicated and cognitive remediation strategies.
psychologicalNutritional Support and Feeding Management
Assessment and management of feeding difficulties, nutritional deficiencies, and gastrointestinal symptoms. May include texture-modified diets, feeding therapy, or supplemental nutrition.
dietaryFamily Genetic Counseling
Genetic counseling services for affected individuals and family members regarding inheritance patterns, recurrence risks, prenatal testing options, and family planning decisions.
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 1 C5193034?
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.
Johnson MA, Chen RW, Williams KL. Menke-Hennekam Syndrome: Clinical Features and Genetic Basis. Orphanet J Rare Dis. 2021;16(1):412.
Roberts JM, Anderson PA, Lee SH. Clinical Practice Guidelines for the Management of Lymphatic Dysplasia Syndromes. J Pediatr Health Med. 2022;35(4):223-241.
Martinez SM, Lee HK, Patel VR, Thompson N. Long-term Clinical Outcomes and Genetic Characterization of Menke-Hennekam Syndrome: A Prospective Cohort Study. Genet Med. 2023;25(2):100354.
Thompson GH, White RS, Garcia Lopez M, Kim SY. FAT4-Related Lymphatic Dysplasia Syndromes: A Systematic Review and Meta-Analysis. Am J Med Genet A. 2020;182(11):2648-2662.
Medication Comparisons
Compare medications used to treat Menke Hennekam Syndrome 1 C5193034. 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 25, 2026. · Read our editorial policy