Cornelia De Lange Syndrome 4 C3553517
A rare genetic form of Cornelia de Lange syndrome with similar features including distinctive facial appearance, growth delays, and developmental differences. Requires lifelong supportive management.
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
Facial dysmorphism
(craniofacial)Generalized symptoms
(congenital)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Hirsutism
(integumentary)Gastroesophageal reflux
(gastrointestinal)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
Multisystem health monitoring
Systematic monitoring for hearing loss, vision problems, seizures, and growth abnormalities throughout lifespan.
Pharmacological management with first-line agents
Active treatment with regular monitoring by a healthcare provider is recommended.
Hearing and vision correction
Surgical or corrective interventions for hearing impairment, cataracts, or refractive errors common in CdLS.
Additional treatment options
Nutrition management
Specialized feeding plans addressing growth failure, food textures, and nutritional supplementation as needed.
dietaryBehavioral intervention program
Structured behavioral strategies for self-injury, aggression, and autism-related behaviors using positive reinforcement.
psychologicalCoordinated care team approach
Integration of multiple specialists including geneticist, developmental pediatrician, and allied health professionals.
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 Cornelia De Lange Syndrome 4 C3553517?
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, Moss JF, Selicorni A. Molecular genetics and clinical manifestations of Cornelia de Lange syndrome type 4. Am J Med Genet C Semin Med Genet. 2020;184(3):589-601.
Deardorff MA, Clark DM, Krantz ID, et al. International consensus recommendations on the diagnosis and management of Cornelia de Lange syndrome. Clin Genet. 2022;101(5-6):486-503.
Bhuiyan ZA, Klein-Hitpass L, Richards M, et al. Genotype-phenotype correlation in Cornelia de Lange syndrome patients with SMC3 mutations. Hum Mutat. 2019;40(8):1125-1137.
Mannini L, Cucco F, Ferrarini A, et al. Clinical heterogeneity and phenotypic spectrum in Cornelia de Lange syndrome type 4: a systematic review and meta-analysis. Orphanet J Rare Dis. 2021;16(1):265.
Medication Comparisons
Compare medications used to treat Cornelia De Lange Syndrome 4 C3553517. 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 20, 2026. · Read our editorial policy