Cardioacrofacial Dysplasia 2 C5436886
A genetic syndrome related to cardoacrofacial dysplasia 1, affecting the heart, face, and limbs. Care focuses on addressing specific symptoms across affected systems.
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
Atrioventricular block
Cryptorchidism
(congenital)Generalized symptoms
(congenital)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Midface retrusion
(craniofacial)Broad forehead
(craniofacial)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
Exercise prescription and weight management
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
Dermatological management
Topical treatments and specialized skincare regimens for managing keratosis pilaris, eczema, and other skin manifestations typical of the syndrome.
medicationMotor development therapy
Targeted physical therapy to address hypotonia, improve coordination, and enhance gross motor skills development.
physical_therapyGenetic 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 2 C5436886?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
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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.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy