How is Treacher Collins syndrome 3 inherited?

Treacher Collins syndrome 3 follows an autosomal recessive inheritance pattern. This means a child must inherit a copy of the altered gene from both parents to develop the condition. Parents who each carry one copy typically do not show symptoms.

How is Treacher Collins syndrome 3 diagnosed?

Information about diagnosis is currently limited for this condition.

Are there treatments for Treacher Collins syndrome 3?

Information about treatment is currently limited for this condition.

What are the potential complications of Treacher Collins syndrome 3?

Information about complications specific to Treacher Collins syndrome 3 is currently limited. However, since this condition affects facial development, individuals may face challenges related to breathing, eating, or hearing. It's important to work closely with healthcare providers to monitor and manage any complications that may arise.

How might Treacher Collins syndrome 3 affect daily life?

Daily life for someone with Treacher Collins syndrome 3 may include unique challenges related to facial development. This can impact social interactions and self-esteem. Support from family, friends, and professionals can help individuals navigate these challenges and lead fulfilling lives.

What is the life expectancy for someone with Treacher Collins syndrome 3?

Information about life expectancy for individuals with Treacher Collins syndrome 3 is currently limited. The prognosis can vary widely depending on the severity of symptoms and any associated complications. Regular check-ups with healthcare providers can help manage health and improve quality of life.

Are there any specialists recommended for managing Treacher Collins syndrome 3?

While specific recommendations for specialists in Treacher Collins syndrome 3 are not detailed, it is generally helpful to consult with a team of healthcare providers. This may include geneticists, otolaryngologists, and speech therapists who can address the various aspects of the condition and provide comprehensive care.

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Organ System	Phenotype Count	Example Features
Head and neck	2	Cleft palate, Mandibulofacial dysostosis
Ears	1	Conductive hearing impairment
Bones and joints	1	Hypoplasia of the zygomatic bone

Treacher Collins syndrome 3 - Clinical Profile, Genes & Research | Kisho | Kisho

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

GeneReviews

Diagnostic Criteria

No consensus clinical diagnostic criteria for Treacher Collins syndrome (TCS) have been published.

Suggestive Findings

TCS should be suspected in probands with the following craniofacial features, conductive hearing loss, and radiographic features.

Craniofacial features

Source: GeneReviews — "Treacher Collins Syndrome"

GeneReviews

Differential Diagnosis

Table 3a. Genes of Interest in the Differential Diagnosis of Treacher Collins Syndrome

Gene	Disorder	MOI	Features of Disorder
DHODH	Postaxial acrofacial dysostosis, DHODH-related (Miller syndrome) (OMIM 263750)	AR	Mandibulofacial dysostosis; Eyelid coloboma; Micrognathia; Cleft lip/palate
PLCB4	Auriculocondylar syndrome (OMIM PS602483)	ADAR	Mandibulofacial hypoplasia; Malformed ears; Micrognathia
EDNRA	Mandibulofacial dysostosis w/alopecia, EDNRA-related (OMIM 616367)	AD	Mandibulofacial dysostosis; Malformed ears; Eyelid coloboma

Genetic testing for POLR1C is available. Testing is considered supportive for diagnosis.

Biomarker and diagnostic research for Treacher Collins syndrome 3 has been reported in the published literature.

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

No approved treatments are currently available for Treacher Collins syndrome 3. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

No clinical practice guidelines for Treacher Collins syndrome (TCS) have been published. In the absence of published guidelines, the following recommendations are based on the authors' personal experience managing individuals with this disorder. Evaluations Following Initial Diagnosis To establish the extent of disease and needs in an individual diagnosed with TCS, the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended. Table 4. Treacher Collins Syndrome: Recommended Evaluations Following Initial Diagnosis

System/Concern	Evaluation	Comment
Eyes	Ophthalmologic eval w/attention to extraocular movement, corneal exposure, visual acuity	—
Hearing	Formal audiology eval (See Genetic Hearing Loss Overview.)	In those w/conductive hearing loss identified at age 6 mos: craniofacial CT scan (axial coronal slices) to assess anatomy of head neck, external auditory canal, middle ear, inner ear
Respiratory	Assess for choanal atresia/stenosis, micrognathia, glossoptosis predisposing to obstruction of oropharynx.	If obstructive sleep apnea is suspected, consider sleep study.
Feeding/Nutrition	Assess for cleft palate swallowing function.	—
Dental	Assess for dental anomalies.

Source: GeneReviews — "Treacher Collins Syndrome"

GeneReviews

Therapies Under Investigation

Search ClinicalTrials.gov in the US and EU Clinical Trials Register in Europe for information on clinical studies for a wide range of diseases and conditions.

Source: GeneReviews — "Treacher Collins Syndrome"

Clinical Trials

View trials for Treacher Collins syndrome 3

Explore Trials

Prognosis

Based on GeneReviews surveillance recommendations, HPO phenotype frequency and severity annotations, and published prevalence estimates from Orphanet and OMIM.

GeneReviews

Surveillance Guidelines

To monitor existing manifestations, the individual's response to supportive care, and the emergence of new manifestations, the evaluations summarized in are recommended. Table 5. Recommended Surveillance for Individuals with Treacher Collins Syndrome

System/Concern	Evaluation	Frequency
Eyes	Ophthalmology eval	Annually or as needed Hearing
Airway	Assess for manifestations of obstructive sleep apnea.	At each visit Feeding/Nutrition
Dental	Dental exam	Every 6 mos Orthodontia exam
Musculoskeletal manifestations	Clinical assessment for scoliosis pes planus	Annually
Developmental	Assess speech development educational progress.	Annually or as needed

Source: GeneReviews — "Treacher Collins Syndrome"

Phenotype severity distribution: 5 always present features, 3 common features.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for Treacher Collins syndrome 3.

20 publications have been identified in PubMed for Treacher Collins syndrome 3. Research spans Case Report / Case Series (26%), Basic Science / Preclinical (26%), and Epidemiology / Natural History (21%).

Research Type	Count	% of Total
Patient case studies	5	26%
Laboratory research	5	26%
Disease patterns and progression	4	21%
Research summaries	3	16%
Testing and diagnosis research	1	5%
Clinical study results	1	5%

Recent Publications

Camarillo-Benitez S (2026). [PMID: 41752027](https://pubmed.ncbi.nlm.nih.gov/41752027/). *International journal of molecular sciences*. [Basic Science / Preclinical]
Wang B (2026). [PMID: 41527140](https://pubmed.ncbi.nlm.nih.gov/41527140/). *Journal of medical case reports*. [Review / Meta-Analysis]
Ferraro F (2026). [PMID: 41017149](https://pubmed.ncbi.nlm.nih.gov/41017149/). *HGG advances*. [Case Report / Case Series]
Kawakami K (2026). [PMID: 41542823](https://pubmed.ncbi.nlm.nih.gov/41542823/). *FEBS open bio*. [Clinical Trial Publication]
Li X (2025). [PMID: 39389540](https://pubmed.ncbi.nlm.nih.gov/39389540/). *Journal of stomatology, oral and maxillofacial surgery*. [Diagnostic / Biomarker]
Gorjão N (2025). [PMID: 40222657](https://pubmed.ncbi.nlm.nih.gov/40222657/). *Biochimica et biophysica acta. Molecular cell research*. [Basic Science / Preclinical]
Ma LK (2025). [PMID: 38105178](https://pubmed.ncbi.nlm.nih.gov/38105178/). *The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association*. [Epidemiology / Natural History]
Saleeb MF (2025). [PMID: 39210075](https://pubmed.ncbi.nlm.nih.gov/39210075/). *European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery*. [Review / Meta-Analysis]
van Roey VL (2025). [PMID: 40387849](https://pubmed.ncbi.nlm.nih.gov/40387849/). *The Journal of craniofacial surgery*. [Review / Meta-Analysis]
Wenger TL (2025). [PMID: 40280475](https://pubmed.ncbi.nlm.nih.gov/40280475/). *The Journal of pediatrics*. [Epidemiology / Natural History]

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:248390

GARD

Genetic and Rare Diseases Info Center

GARD:9125

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

FAQ

Frequently Asked Questions

Common questions about Treacher Collins syndrome 3

Treacher Collins syndrome 3 is a type of Treacher-Collins syndrome caused by a mutation in the POLR1C gene. This condition is part of a group of disorders that affect facial development and is known by several names, such as POLR1C Treacher-Collins syndrome, TCS3, and Treacher Collins syndrome type 3. Because it is a rare form of a broader syndrome, the details about its presentation may vary. The primary source of this condition is the genetic mutation in POLR1C, which sets it apart from other types of Treacher-Collins syndrome.

Information about symptoms is currently limited for this condition.

The condition is caused by a mutation in the POLR1C gene. This genetic change affects the normal development of facial structures seen in people with this form of Treacher-Collins syndrome. Associated genes include POLR1C.

Kisho

Treacher Collins syndrome 3

Overview

Clinical Presentation

Clinical Guidance

Explore clinical features

Genetic Landscape

Clinical Guidance

Penetrance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Differential Diagnosis

Treatment

Management Guidelines

Therapies Under Investigation

Clinical Trials

Prognosis

Surveillance Guidelines

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Questions for Your Care Team

Questions for Your Care Team

FAQ

Frequently Asked Questions

Treacher Collins syndrome 3

Overview

Clinical Presentation

Clinical Guidance

Explore clinical features

Genetic Landscape

Clinical Guidance

Penetrance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Differential Diagnosis

Treatment

Management Guidelines

Therapies Under Investigation

Clinical Trials

Prognosis

Surveillance Guidelines

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

FAQ

Frequently Asked Questions

What is Treacher Collins syndrome 3?

What are the symptoms of Treacher Collins syndrome 3?

What causes Treacher Collins syndrome 3?

How is Treacher Collins syndrome 3 inherited?

How is Treacher Collins syndrome 3 diagnosed?

Are there treatments for Treacher Collins syndrome 3?

What are the potential complications of Treacher Collins syndrome 3?

How might Treacher Collins syndrome 3 affect daily life?

What is the life expectancy for someone with Treacher Collins syndrome 3?

Are there any specialists recommended for managing Treacher Collins syndrome 3?