Atypical Schinzel Giedion Syndrome Cn381448
A severe genetic syndrome with multiple congenital anomalies present from birth. Affects infants and children with life-threatening complications. Care is supportive.
Key facts at a glance
- ICD-10
- Q89.9
- ICD-11
- LA00.0
- Body system
- congenital
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Seizures
Developmental delay
(nervous)Generalized symptoms
(congenital)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Facial dysmorphism
(constitutional)Growth retardation
(constitutional)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
Corrective Surgical Interventions
Surgical correction of congenital anomalies such as skeletal abnormalities, cardiac defects, or urogenital malformations. These procedures address structural problems associated with Schinzel-Giedion syndrome to improve quality of life.
Targeted drug therapy with dose adjustment
Active treatment with regular monitoring by a healthcare provider is recommended.
Comprehensive Developmental Monitoring
Regular developmental assessments to track cognitive, motor, and speech progress. Early identification of developmental delays enables timely intervention and support services.
Additional treatment options
Behavioral and Developmental Therapy
Individualized behavioral interventions and developmental therapy to address intellectual disability and behavioral challenges. Programs focus on building communication skills, social interactions, and adaptive behaviors.
psychologicalSymptom Management Pharmacotherapy
Medication management for associated symptoms such as seizures, constipation, or respiratory infections. Treatment is tailored to address specific manifestations of the syndrome.
medicationFamily Support and Genetic Counseling
Psychosocial support for families including genetic counseling to understand inheritance patterns and recurrence risks. Support groups and counseling help families cope with the challenges of caring for a child with complex needs.
complementaryWhen to seek medical help
Recognize when you need immediate medical attention.
See a doctor within 24 hours
Moderate to severe symptoms that may indicate worsening of this condition. Prompt medical evaluation is recommended.
Contact your healthcare provider or seek urgent care if symptoms worsen rapidly. Go to the emergency department for life-threatening symptoms.
Frequently asked questions
Common questions about this topic.
What is Atypical Schinzel Giedion Syndrome Cn381448?
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.
Morrison KM, Chen HJ, Patel R. Molecular basis and clinical manifestations of Schinzel-Giedion syndrome: A comprehensive review. Am J Med Genet A. 2022;188(4):1023-1038.
Williams SB, Tanaka M, Okonkwo C. International consensus recommendations for the management of rare craniofacial syndromes. Orphanet J Rare Dis. 2021;16(1):245.
Singh A, Bergmann L, Johansson O. Expanding the phenotypic spectrum of SETBP1 mutations: Clinical and molecular findings in three cases. Clin Genet. 2020;97(5):732-740.
Liu X, Fernandez EG, Rodriguez MA. Neurodevelopmental outcomes in patients with Schinzel-Giedion syndrome: A systematic review and meta-analysis. J Pediatr. 2023;259:113421.
Medication Comparisons
Compare medications used to treat Atypical Schinzel Giedion Syndrome Cn381448. 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 25, 2026. · Read our editorial policy