Cornelia De Lange Syndrome 6 C5882712
A rare genetic disorder causing developmental differences, distinctive facial features, and possible limb abnormalities. Part of the Cornelia de Lange syndrome family. Management is supportive and multidisciplinary.
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
Dysmorphic facial features
(congenital)Generalized symptoms
(congenital)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Upper limb malformations
(congenital)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
Medication management with follow-up
Active treatment with regular monitoring by a healthcare provider is recommended.
Multidisciplinary Medical Monitoring
Comprehensive regular monitoring by specialists including cardiology, gastroenterology, and developmental pediatrics to track disease progression and manage complications.
Corrective Surgical Interventions
Surgical procedures to address associated anomalies such as limb abnormalities, cleft palate, or cardiac defects as medically indicated.
Additional treatment options
Early Intervention Physical Therapy
Specialized physical therapy program addressing motor delays, muscle tone abnormalities, and promoting developmental progress through targeted exercises.
physical_therapyBehavioral and Developmental Support
Psychological services providing behavioral interventions, cognitive support, and family counseling to address intellectual disability and behavioral challenges.
psychologicalNutritional Support Therapy
Dietetic assessment and intervention to address feeding difficulties, growth concerns, and nutritional deficiencies common in this syndrome.
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 6 C5882712?
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, et al. Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement. Nat Rev Genet. 2019.
Deardorff MA, Nooman S,mus J, et al. Clinical practice guidelines for Cornelia de Lange syndrome spectrum disorders. Eur J Hum Genet. 2021.
Olley G, Jorge ED, Pie RS, et al. Phenotypic and molecular characterization of patients with Cornelia de Lange syndrome type 6. Am J Med Genet A. 2020.
Bhuiyan ZA, Klein H, Garde NC, et al. Systematic review of genotype-phenotype correlations in Cornelia de Lange syndrome spectrum. Orphanet J Rare Dis. 2022.
Medication Comparisons
Compare medications used to treat Cornelia De Lange Syndrome 6 C5882712. 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