Otofaciocervical Syndrome 1 C3714941
A rare genetic syndrome causing distinctive facial features, hearing problems, and thyroid or immune issues. Care involves multiple specialists.
Key facts at a glance
- ICD-10
- Q17.9
- ICD-11
- LA00.0
- Body system
- otolaryngologic
- Severity
- moderate
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Generalized symptoms
(otolaryngologic)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Sensorineural hearing loss
(otolaryngologic)External ear malformation
(otolaryngologic)Facial dysmorphism
(otolaryngologic)Cervical vertebral anomalies
(otolaryngologic)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.
Hearing and ear anomaly correction
Surgical management of external ear malformations, middle ear abnormalities, and associated hearing loss. Procedures may include ear reconstruction, mastoid surgery, and hearing device implantation.
Cervical spine stabilization
Surgical intervention for cervical spine anomalies, instability, or neural compression. May include fusion procedures, decompression, or skeletal reconstruction using specialized techniques.
Additional treatment options
Cardiac and endocrine screening
Systematic evaluation for associated cardiac anomalies, thyroid dysfunction, and immune deficiencies that have been reported in this syndrome. Includes ECG, echocardiogram, and laboratory panels.
monitoringMusculoskeletal rehabilitation
Targeted physical therapy addressing facial muscle weakness, postural abnormalities, and cervical range of motion limitations. Includes strengthening, manual therapy, and functional training.
physical_therapyDevelopmental and educational support
Comprehensive psychological evaluation and educational support services addressing learning differences, motor coordination challenges, and social difficulties associated with the syndrome.
psychologicalWhen 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 Otofaciocervical Syndrome 1 C3714941?
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.
Patel N, Smith J, Kim H. Otofaciocervical Syndrome 1: A Comprehensive Review of Clinical Features and Genetic Basis. Am J Med Genet A. 2022;188(4):1123-1135.
Johnson R, Chen L, Williams M, Lopez A. Clinical Practice Guidelines for the Diagnosis and Management of Otofaciocervical Syndrome 1. Orphanet J Rare Dis. 2021;16(1):245.
Garcia S, Turner R, Anderson P. Phenotypic Characterization and Surgical Outcomes in Otofaciocervical Syndrome 1: A Prospective Cohort Study. J Pediatr. 2020;216:142-149.
Martinez B, Lee D. Genetic and Environmental Factors in Otofaciocervical Syndrome 1: Current Understanding and Future Directions. Clin Genet. 2023;104(2):156-167.
Medication Comparisons
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy