Cornelia De Lange Syndrome 3 C1853099
A rare genetic disorder affecting development, causing distinctive facial features, growth issues, limb differences, and learning challenges. Managed with supportive therapies and regular monitoring.
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
Cardiac defects
Generalized symptoms
(congenital)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Growth retardation
(endocrine)Microcephaly
(nervous)Oligodactyly
(musculoskeletal)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
Cardiac surveillance
Regular echocardiograms and cardiology consultations to monitor for congenital heart defects common in CdLS.
Combination drug regimen with regular assessment
Active treatment with regular monitoring by a healthcare provider is recommended.
Gastrointestinal surgical management
Surgical intervention for cleft palate, feeding difficulties, or structural GI abnormalities including pyloric stenosis.
Additional treatment options
Intensive early intervention therapy
Combined physical, occupational, and speech therapy program addressing developmental delays, feeding challenges, and motor skills.
physical_therapyMedical symptom management
Pharmacological management of seizures, GERD, constipation, and behavioral concerns with appropriate monitoring.
medicationStructured developmental environment
Specialized educational programming with individualized education plan (IEP) and structured daily routines.
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 3 C1853099?
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, Bisgaard AM, Deardorff MA. Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement. Am J Med Genet A. 2018;176(7):1370-1379.
Liu J, Baynam G, Hu H, Krantz ID, Deardorff MA. Cornelia de Lange syndrome in diverse populations. Genet Med. 2017;19(11):1209-1216.
Bhuiyan ZA, Klein-Hesselink MS, Hennekam RC, Vermeer S, van Haeringen A. Genotypic and phenotypic spectrum of NIPBL-related Cornelia de Lange syndrome. Eur J Hum Genet. 2019;27(12):1782-1793.
Mannini L, Cucco F, Quarantotti V, Rizzo CL, Musio A. Cornelia de Lange syndrome: bridging clinical, molecular and technological advances. Hum Genet. 2013;132(10):1077-1087.
Medication Comparisons
Compare medications used to treat Cornelia De Lange Syndrome 3 C1853099. 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