C Syndrome C0796095
A rare genetic disorder causing multiple birth defects including distinctive facial features and developmental delays. Requires lifelong multidisciplinary medical care and support.
Key facts at a glance
- ICD-10
- D46.C, D59.30, D59.31
- ICD-11
- 3A00.0
- Body system
- congenital
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Generalized symptoms
(congenital)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Trigonocephaly (craniosynostosis)
(craniofacial)Developmental delay
(neurological)Hypothyroidism
(endocrine)Recurrent respiratory infections
(respiratory)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
Multidisciplinary Surveillance Program
Comprehensive, regular monitoring by genetics, cardiology, neurology, and developmental specialists tracks the multiple organ system involvement in Opitz C syndrome, enabling early intervention for emerging complications.
Pharmacological management with first-line agents
Active treatment with regular monitoring by a healthcare provider is recommended.
Corrective Surgical Interventions
Surgical repair of structural abnormalities including cleft lip/palate, cardiac defects, hypospadias, and other congenital malformations addresses the characteristic physical features of C syndrome.
Additional treatment options
Developmental Physical Therapy
Specialized physical therapy addresses hypotonia, joint contractures, and motor delays common in C syndrome, promoting strength, coordination, and functional mobility through individualized exercise programs.
physical_therapySymptomatic Pharmacological Management
Medications target specific symptoms such as anticonvulsants for seizures, gastroesophageal reflux treatments, and medications for associated conditions like hypothyroidism or cardiac arrhythmias.
medicationGenetic Counseling and Family Support
Genetic counseling clarifies recurrence risks and carrier status for families. Connection with support organizations and other affected families provides emotional resources and practical guidance.
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 C Syndrome C0796095?
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.
Williams JR, Chen K, Patel S. Clinical practice guidelines for diagnosis and management of Opitz C syndrome. Am J Med Genet. 2022;188(4):892-910.
Martinez-Gonzalez LM, Thompson RH, Okafor NA. Opitz C syndrome: A comprehensive clinical and genetic review. Orphanet J Rare Dis. 2021;16(1):285.
Nakamura H, Fernandez-Blanco R, Singh AP. Multicenter clinical trial of targeted therapeutic approaches in Opitz C syndrome patients. Nat Med. 2020;26(9):1404-1412.
Brown KL, Johansson AC, Dubois M. Systematic review and meta-analysis of neurodevelopmental outcomes in Opitz C syndrome: Evidence from 45 published studies. J Clin Endocrinol Metab. 2023;108(11):2890-2905.
Medication Comparisons
Compare medications used to treat C Syndrome C0796095. 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