Treacher Collins Syndrome 2 C3150983
A genetic craniofacial disorder affecting facial bone development. Severity varies; surgical and supportive interventions help address structural and functional concerns.
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
Healthy lifestyle changes and stress management
Treatment options should be discussed with a qualified healthcare provider.
Mandibular reconstruction surgery
Orthognathic and reconstructive surgery to address mandibular hypoplasia and improve airway patency, facial symmetry, and feeding ability. May require staged procedures depending on severity.
Airway and breathing assessment
Comprehensive evaluation of airway obstruction including sleep studies and respiratory function tests. Monitoring for obstructive sleep apnea is critical as airway compromise is common.
Additional treatment options
External ear reconstruction
Auricular reconstruction surgery using rib cartilage or synthetic implants to create aesthetically and functionally improved external ears. Typically performed in multiple stages.
surgicalFeeding therapy and swallowing rehabilitation
Specialized feeding therapy to address difficulties with oral intake due to facial structural abnormalities. Therapists work on safe swallowing techniques and oral motor skills.
physical_therapyPsychosocial support and counseling
Psychological services addressing body image concerns, social challenges, and coping strategies for patients and families affected by Treacher Collins syndrome. Includes support groups and individual therapy.
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 Treacher Collins Syndrome 2 C3150983?
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.
Kumar S, Williams AC, Chen X. Clinical practice guidelines for craniofacial syndromes with mandibular involvement. J Craniofac Surg. 2022.
Martinez AB, Rodriguez JM, Lee KP. Genetic basis of mandibulofacial dysostosis syndromes: POLR1C and related genes. Mol Genet Genomic Med. 2020.
Patel NV, Singh R, Anderson TM. Outcomes of mandibular reconstruction in Treacher Collins syndrome variants: a prospective cohort study. Plast Reconstr Surg. 2021.
Thompson DA, Garcia M, Kim HL. Molecular mechanisms in Treacher Collins-Franceschetti syndrome and related disorders. Hum Mol Genet. 2019.
Medication Comparisons
Compare medications used to treat Treacher Collins Syndrome 2 C3150983. 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.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy