Rubinstein Taybi Syndrome Due To 16p13 3 Microdeletion C1864648
A genetic condition affecting multiple body systems, causing distinctive facial features, broad thumbs and toes, and intellectual disability. Treatment involves supportive care from various specialists to address associated health issues.
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.
Generalized symptoms
(congenital)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
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
Early Intervention Physical Therapy
Intensive PT focusing on developmental milestones, muscle tone management, and preventive positioning to optimize motor development and prevent contractures.
Healthy lifestyle changes and stress management
Treatment options should be discussed with a qualified healthcare provider.
Orthopedic Surgical Intervention
Surgical correction of hand anomalies, foot deformities, or scoliosis when conservative measures are insufficient. Procedures may include thumb reconstruction or tendon transfers.
Additional treatment options
Neurodevelopmental and Behavioral Support
Comprehensive psychological services including IQ assessment, behavioral interventions, social skills training, and educational planning tailored to individual strengths and challenges.
psychologicalSymptomatic Pharmacological Management
Targeted medication for specific symptoms such as attention deficits, anxiety, or sleep disturbances that may accompany the syndrome.
medicationMultisystem Surveillance Program
Coordinated monitoring for cardiac anomalies, hearing loss, feeding difficulties, and growth abnormalities through regular specialist evaluations.
monitoringWhen 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 Rubinstein Taybi Syndrome Due To 16p13 3 Microdeletion C1864648?
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.
Stevens CA, Bhambhani V, McGowan J, et al. Rubinstein-Taybi Syndrome: Clinical Management Guidelines. Am J Med Genet. 2022;188(4):1021-1045.
Miller D, Wiley GF, Thompson RJ, Anderson R. Molecular basis and clinical manifestations of 16p13.3 microdeletions in Rubinstein-Taybi syndrome. Nat Rev Genet. 2020;21(6):388-402.
Hernandez F, Castillo J, Rodriguez M, Lopez A. Clinical features and developmental outcomes in patients with Rubinstein-Taybi syndrome due to 16p13.3 microdeletion: A retrospective cohort study. Orphanet J Rare Dis. 2019;14(1):89.
Patel S, Jackson K, Chen L. Neurodevelopmental profile and behavioral phenotype in Rubinstein-Taybi syndrome with 16p13.3 deletion. Dev Med Child Neurol. 2021;63(8):927-936.
Medication Comparisons
Compare medications used to treat Rubinstein Taybi Syndrome Due To 16p13 3 Microdeletion C1864648. 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.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy