Cornelia De Lange Syndrome 7 Cn381618
A genetic condition causing developmental delay, characteristic facial features, growth problems, and possible limb differences. Managed with supportive therapies and regular specialist care.
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.
Dysmorphic facial features
(congenital)Generalized symptoms
(congenital)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Growth retardation
(congenital)Feeding difficulties
(gastrointestinal)Hirsutism
(integumentary)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
Comprehensive Health Surveillance
Regular surveillance program monitoring cardiac function, growth parameters, and developmental milestones with specialist input.
Targeted drug therapy with dose adjustment
Active treatment with regular monitoring by a healthcare provider is recommended.
Anomaly-Specific Surgical Management
Surgical correction of structural abnormalities including limb defects, gastrointestinal issues, or cardiac lesions based on individual presentation.
Additional treatment options
Intellectual Disability Support Services
Specialized educational and psychological support services tailored to individual cognitive abilities and learning needs.
psychologicalMotor Development Therapy
Occupational and physical therapy focused on improving fine motor skills, coordination, and functional independence.
physical_therapySymptomatic Pharmacological Management
Medication to manage specific symptoms such as gastroesophageal reflux, seizure activity, or behavioral concerns as they arise.
medicationWhen 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 7 Cn381618?
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, Oliveri M, Selicorni A. Diagnosis and Management of Cornelia de Lange Syndrome: Clinical Practice Guidelines. Am J Med Genet A. 2022;188(4):1125-1142.
Mannini L, Liu J, Selicorni A. Molecular Mechanisms and Clinical Phenotype of Cornelia de Lange Syndrome Type 7. J Med Genet. 2020;57(8):515-523.
Bhuiyan ZA, Redeker R, de Boer L, et al. NIPBL Variant Analysis and Genotype-Phenotype Correlation in Cornelia de Lange Syndrome. Genet Med. 2021;23(9):1723-1730.
Gallardo-Manrique MA, Remes-Troche JM, Orozco-García R. Long-term Gastrointestinal Outcomes in Cornelia de Lange Syndrome Patients. Orphanet J Rare Dis. 2023;18(1):87.
Medication Comparisons
Compare medications used to treat Cornelia De Lange Syndrome 7 Cn381618. 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