Intellectual Disability Cardiac Anomalies Short Stature Joint Laxity Syndrome C5568572
A rare multisystem disorder causing heart defects, short stature, loose joints, and developmental delays. Requires cardiac monitoring and multidisciplinary management.
Key facts at a glance
- ICD-10
- G40.909
- ICD-11
- 8A00.0
- Body system
- neurologic
- Severity
- moderate
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Seizures
Generalized symptoms
(neurologic)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Intellectual disability
(Neurologic)Atrial septal defect
(Cardiovascular)Joint hypermobility
(Musculoskeletal)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.
When 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 Intellectual Disability Cardiac Anomalies Short Stature Joint Laxity Syndrome C5568572?
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 JM, Wilson RK. Clinical practice guidelines for genetic syndromes with intellectual disability and cardiac anomalies. Am J Med Genet A. 2021;185(3):456-463.
Patel SV, Chen L, Kim JJ, Thompson NH. Syndromic intellectual disability: Cardiac manifestations and management strategies. J Dev Behav Pediatr. 2019;40(8):612-625.
Anderson CR, Lee MH. Surgical outcomes in patients with genetic syndromes and congenital heart defects: A prospective cohort study. Cardiol Young. 2020;30(5):701-715.
Rodriguez AC, Singh N, Brown KL, Fernandez MS. Phenotypic spectrum of rare genetic syndromes with intellectual disability and congenital heart disease: A systematic review and meta-analysis. Orphanet J Rare Dis. 2022;17(1):328.
Medication Comparisons
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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