Cardiac Anomalies Short Stature Joint Hypermobility Facial Dysmorphism Syndrome Due To Tab2 Mutation C5925073
A genetic syndrome affecting multiple body systems, causing heart defects, short stature, loose joints, and distinctive facial features due to a TAB2 gene change. Care focuses on managing heart issues and associated 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
Congenital heart defect
Generalized symptoms
(congenital)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Joint hypermobility
(skeletal)Short stature
(growth)Facial dysmorphism
(facial)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
Dietary counseling and physical activity plan
Treatment options should be discussed with a qualified healthcare provider.
Regular cardiac imaging and ECG
Serial echocardiograms and electrocardiograms to monitor cardiac anomalies associated with TAB2 mutation. Detects changes in cardiac structure and function over time.
Joint hypermobility rehabilitation program
Targeted physical therapy focusing on muscle strengthening and joint stabilization to compensate for connective tissue laxity. Includes proprioceptive training and safe exercise protocols.
Additional treatment options
Cardiac surgery for structural defects
Corrective surgical procedures to repair congenital cardiac anomalies such as septal defects or valve abnormalities present in this syndrome. Timing determined by hemodynamic significance.
surgicalDevelopmental and behavioral support
Comprehensive psychological assessment and ongoing support services addressing developmental delays, learning difficulties, and social challenges associated with the syndrome.
psychologicalArrhythmia management
Pharmacological management of cardiac arrhythmias that may occur with TAB2 mutations. Beta-blockers or other antiarrhythmic agents based on specific rhythm disturbance identified.
medicationWhen 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 Cardiac Anomalies Short Stature Joint Hypermobility Facial Dysmorphism Syndrome Due To Tab2 Mutation C5925073?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalMedication Comparisons
Compare medications used to treat Cardiac Anomalies Short Stature Joint Hypermobility Facial Dysmorphism Syndrome Due To Tab2 Mutation C5925073. 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