People with Treacher Collins syndrome often have eyes that slant downward, sparse eyelashes, and a notch in the lower eyelids called a coloboma. Some people have additional eye abnormalities that can lead to vision loss. The condition is also characterized by absent, small, or unusually formed ears. Defects in the middle ear (which contains three small bones that transmit sound) cause hearing loss in about half of affected people. People with Treacher Collins syndrome usually have normal intelligence.[3]
You can read additional information about the features of Treacher Collins syndrome through MedlinePlus and GeneReviews.
The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
| Signs and Symptoms | Approximate number of patients (when available) |
| Abnormality of bone mineral density | Very frequent (present in 80%-99% of cases) |
| Downslanted palpebral fissures | Very frequent (present in 80%-99% of cases) |
| Hypoplasia of the maxilla | Very frequent (present in 80%-99% of cases) |
| Hypoplasia of the zygomatic bone | Very frequent (present in 80%-99% of cases) |
| Malar flattening | Very frequent (present in 80%-99% of cases) |
| Micrognathia | Very frequent (present in 80%-99% of cases) |
| Midface retrusion | Very frequent (present in 80%-99% of cases) |
| Open bite | Very frequent (present in 80%-99% of cases) |
| Retrognathia | Very frequent (present in 80%-99% of cases) |
| Short face | Very frequent (present in 80%-99% of cases) |
| Skeletal dysplasia | Very frequent (present in 80%-99% of cases) |
| Absent eyelashes | Frequent (present in 30%-79% of cases) |
| Cleft eyelid | Frequent (present in 30%-79% of cases) |
| Conductive hearing impairment | Frequent (present in 30%-79% of cases) |
| Frontal bossing | Frequent (present in 30%-79% of cases) |
| Iris coloboma | Frequent (present in 30%-79% of cases) |
| Low anterior hairline | Frequent (present in 30%-79% of cases) |
| Microtia | Frequent (present in 30%-79% of cases) |
| Narrow internal auditory canal | Frequent (present in 30%-79% of cases) |
| Reduced number of teeth | Frequent (present in 30%-79% of cases) |
| Strabismus | Frequent (present in 30%-79% of cases) |
| Visual impairment | Frequent (present in 30%-79% of cases) |
| Wide nasal bridge | Frequent (present in 30%-79% of cases) |
| Abnormality of dental enamel | Occasional (present in 5%-29% of cases) |
| Abnormality of dental morphology | Occasional (present in 5%-29% of cases) |
| Abnormality of the adrenal glands | Occasional (present in 5%-29% of cases) |
| Abnormality of the vertebral column | Occasional (present in 5%-29% of cases) |
| Blepharospasm | Occasional (present in 5%-29% of cases) |
| Brachycephaly | Occasional (present in 5%-29% of cases) |
| Branchial fistula | Occasional (present in 5%-29% of cases) |
| Cataract | Occasional (present in 5%-29% of cases) |
| Choanal atresia | Occasional (present in 5%-29% of cases) |
| Cleft palate | Occasional (present in 5%-29% of cases) |
| Cleft upper lip | Occasional (present in 5%-29% of cases) |
| Cryptorchidism | Occasional (present in 5%-29% of cases) |
| Dysphasia | Occasional (present in 5%-29% of cases) |
| Encephalocele | Occasional (present in 5%-29% of cases) |
| Facial cleft | Occasional (present in 5%-29% of cases) |
| Failure to thrive | Occasional (present in 5%-29% of cases) |
| Glossoptosis | Occasional (present in 5%-29% of cases) |
| High palate | Occasional (present in 5%-29% of cases) |
| Hypertelorism | Occasional (present in 5%-29% of cases) |
| Hypoplasia of penis | Occasional (present in 5%-29% of cases) |
| Hypoplasia of the thymus | Occasional (present in 5%-29% of cases) |
| Microphthalmia | Occasional (present in 5%-29% of cases) |
| Multiple enchondromatosis | Occasional (present in 5%-29% of cases) |
| Narrow mouth | Occasional (present in 5%-29% of cases) |
| Patent ductus arteriosus | Occasional (present in 5%-29% of cases) |
| Preauricular skin tag | Occasional (present in 5%-29% of cases) |
| Rectovaginal fistula | Occasional (present in 5%-29% of cases) |
| Respiratory insufficiency | Occasional (present in 5%-29% of cases) |
| Scrotal hypoplasia | Occasional (present in 5%-29% of cases) |
| Thyroid hypoplasia | Occasional (present in 5%-29% of cases) |
| Tracheoesophageal fistula | Occasional (present in 5%-29% of cases) |
| Wide mouth | Occasional (present in 5%-29% of cases) |
| Abnormality of cardiovascular system morphology | Very rare (present in 1%-4% of cases) |
| Abnormality of parotid gland | Very rare (present in 1%-4% of cases) |
| Abnormality of the auditory canal | Very rare (present in 1%-4% of cases) |
| Abnormality of the pinna | Very rare (present in 1%-4% of cases) |
| Bilateral microphthalmos | Very rare (present in 1%-4% of cases) |
| Cleft soft palate | Very rare (present in 1%-4% of cases) |
| Hypoplasia of the pharynx | Very rare (present in 1%-4% of cases) |
| Intellectual disability | Very rare (present in 1%-4% of cases) |
| Lacrimal duct stenosis | Very rare (present in 1%-4% of cases) |
| Lower eyelid coloboma | Very rare (present in 1%-4% of cases) |
| Projection of scalp hair onto lateral cheek | Very rare (present in 1%-4% of cases) |
| Ptosis | Very rare (present in 1%-4% of cases) |
| Sparse lower eyelashes | Very rare (present in 1%-4% of cases) |
| Upper eyelid coloboma | Very rare (present in 1%-4% of cases) |
| Visual loss | Very rare (present in 1%-4% of cases) |
| Autosomal dominant inheritance | - |
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
Nonprofit support and advocacy groups bring together patients, families, medical professionals, and researchers. These groups often raise awareness, provide support, and develop patient-centered information. Many are the driving force behind research for better treatments and possible cures. They can direct people to research, resources, and services. Many groups also have experts who serve as medical advisors. Visit their website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
The following diseases are related to Treacher Collins syndrome. If you have a question about any of these diseases, you can contact GARD.
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