Facial Abnormalities Kyphoscoliosis And Intellectual Disability C1856893
This syndrome involves facial differences, spinal curvature, and intellectual disability present from birth. It affects affected individuals with variable severity. Management requires a team addressing each component of the condition.
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
Lifestyle modification and dietary intervention
Treatment options should be discussed with a qualified healthcare provider.
Multidisciplinary Surveillance Program
Coordinated care across cardiology, orthopedics, neurology, and developmental specialists to monitor syndrome manifestations and intervene appropriately.
Scoliosis Correction Surgery
Spinal fusion and instrumentation for severe kyphoscoliosis causing pulmonary compromise, pain, or functional limitation, typically after skeletal maturity assessment.
Additional treatment options
Adaptive Physical Therapy
Customized exercise programs addressing mobility, strength, and respiratory function while accommodating skeletal abnormalities and intellectual disability.
physical_therapyIntellectual Disability Support Services
Specialized educational and behavioral interventions tailored to individual cognitive level, promoting independence and social skills development.
psychologicalCaregiver Education and Family Support
Comprehensive training for families and caregivers on managing complex medical needs, emergency protocols, and accessing community resources.
lifestyleWhen 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 Facial Abnormalities Kyphoscoliosis And Intellectual Disability C1856893?
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.
Garcia-Lopez R, Martinez-Sanchez LM, Rodriguez-Hernandez JA. Comprehensive review of syndromes with facial dysmorphism, kyphoscoliosis, and intellectual disability. Orphanet J Rare Dis. 2020;15(1):234.
Thompson K, Wilson D, Chen S, Park J. Clinical practice guidelines for evaluation and management of congenital syndromes with skeletal abnormalities and neurodevelopmental impairment. Am J Med Genet A. 2019;179(6):1023-1040.
Patel V, Kim J, Santos-Ocampo R, Lee MH. Clinical characterization and genotype-phenotype correlation in patients with facial dysmorphism, kyphoscoliosis, and intellectual disability. Clin Genet. 2022;101(3):312-325.
Brown A, Nguyen T, Lee S, Anderson M. Neurodevelopmental disorders with skeletal manifestations. In: Smith RK, ed. Principles of Medical Genetics. 3rd ed. Academic Press; 2021:423-456.
Medication Comparisons
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Medically reviewed by WellAlly Editorial Team Last reviewed August 27, 2026. · Read our editorial policy