Cardioacrofacial Dysplasia 1 C5436885
A genetic disorder affecting the heart, facial features, and extremities, often presenting with multiple congenital differences. Treatment involves multiple specialists managing various symptoms.
Key facts at a glance
- ICD-10
- Q89.9
- ICD-11
- LA00.0
- Body system
- congenital
- Severity
- moderate
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Cardiac involvement
Generalized symptoms
(congenital)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Facial dysmorphism
(facial)Acral abnormalities
(skeletal)Skin manifestations
(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
Lifestyle modification and dietary intervention
Treatment options should be discussed with a qualified healthcare provider.
Regular cardiac monitoring
Comprehensive cardiac evaluation including echocardiograms and electrocardiograms to monitor for structural heart defects and arrhythmias common in RASopathies.
Cardiac surgical intervention
Surgical correction of congenital heart defects such as pulmonary valve stenosis or hypertrophic cardiomyopathy when clinically indicated.
Additional treatment options
Developmental physical therapy
Specialized exercise program addressing motor delays, joint hypermobility, and muscle weakness commonly associated with the condition.
physical_therapyNeurodevelopmental assessment and support
Comprehensive evaluation of cognitive development and provision of educational support services for learning disabilities.
psychologicalGenetic counseling services
Family counseling regarding inheritance patterns, recurrence risk, and available reproductive options for this genetic condition.
complementaryWhen to seek medical help
Recognize when you need immediate medical attention.
Schedule an appointment soon
Frequently asked questions
Common questions about this topic.
What is Cardioacrofacial Dysplasia 1 C5436885?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy