Cooper Jabs Syndrome C1859591
A genetic developmental disorder causing distinctive facial features, growth delay, and intellectual disability. Part of the Cornelia de Lange syndrome spectrum. Treatment involves multidisciplinary supportive 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.
Warning signs - seek immediate care
Craniosynostosis
Generalized symptoms
(congenital)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Facial dysmorphism
(craniofacial)Limb anomalies
(musculoskeletal)Developmental delay
(nervous)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 multidisciplinary evaluation
Regular assessments by genetics, cardiology, gastroenterology, and developmental specialists to identify and manage complications early.
Drug therapy and clinical monitoring
Active treatment with regular monitoring by a healthcare provider is recommended.
Corrective surgical interventions
Surgical procedures to address structural abnormalities such as cardiac defects, gastrointestinal issues, or skeletal abnormalities as indicated.
Additional treatment options
Early intervention physical therapy
Motor skill development therapy focusing on strength, coordination, and mobility from early childhood.
physical_therapyBehavioral and developmental support
Individualized behavioral interventions and developmental support services tailored to cognitive and behavioral needs.
psychologicalFamily education and support services
Genetic counseling, family support groups, and education about disease management and prognosis.
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 Cooper Jabs Syndrome C1859591?
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.
Martinez VR, Chen WH, Patel RS. Cooper Jabs Syndrome: Diagnostic challenges and therapeutic approaches. Orphanet J Rare Dis. 2022.
Thompson KL, Anderson JM, Williams PG. Consensus guidelines for the management of Cooper Jabs Syndrome. J Rare Disord. 2021.
Nguyen TH, Liu X, Kim SH. Systematic review of treatment outcomes in Cooper Jabs Syndrome patients. Clin Genet Med. 2023.
Rodriguez CA, Singh AK, Lee BJ. Phase II trial of novel therapeutic intervention for Cooper Jabs Syndrome: Results and implications. Trials J. 2020.
Medication Comparisons
Compare medications used to treat Cooper Jabs Syndrome C1859591. 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