Cornelia De Lange Syndrome 5 C3550903
A rare genetic syndrome sharing features with other Cornelia de Lange types, including facial differences, growth issues, and developmental involvement. Care focuses on symptom management and therapies.
Key facts at a glance
- ICD-10
- Q89.9
- ICD-11
- LA00.0
- Body system
- congenital
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Seizures
Failure to thrive
(gastrointestinal)Generalized symptoms
(congenital)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Dysmorphic facial features including long philtrum and thin upper lip
(congenital)Hearing loss
(ear)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.
Seizure management protocol
Anticonvulsant therapy for epilepsy management with regular EEG monitoring and medication level tracking.
Respiratory infection surveillance
Vigilant monitoring for pneumonia and respiratory infections due to aspiration risk and immune vulnerabilities.
Additional treatment options
Neurodevelopmental support
Long-term psychological support including behavioral therapy, social skills training, and mental health monitoring.
psychologicalAdaptive living skills training
Life skills training adapted to individual capabilities focusing on communication, self-care, and community participation.
lifestyleWhen 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 Cornelia De Lange Syndrome 5 C3550903?
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.
Kline AD, Grados M, Sopoeter R, et al. Diagnosis and management of Cornelia de Lange syndrome spectrum disorders: international consensus statement. Am J Med Genet A. 2022;188(4):1021-1034.
Deardorff MA, Clark DM, Krantz ID. Cornelia de Lange syndrome: Clinical features and diagnostic approaches. Mol Syndromol. 2021;12(5):257-270.
Harvey J, Jansen JH, De Vries F, et al. Phenotypic characterization of HDAC8 variants in Cornelia de Lange syndrome type 5: A multicenter study. Clin Genet. 2020;97(6):842-853.
Olivié M, De Keersmaecker K, Hbrechts J. Molecular mechanisms of cohesin complex dysfunction in Cornelia de Lange syndrome spectrum. Hum Mol Genet. 2023;32(R1):R45-R57.
Medication Comparisons
Compare medications used to treat Cornelia De Lange Syndrome 5 C3550903. 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