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 | 90% |
| Dental malocclusion | 90% |
| Hypoplasia of the zygomatic bone | 90% |
| Malar flattening | 90% |
| Skeletal dysplasia | 90% |
| Small face | 90% |
| Abnormality of the pinna | 77% |
| Lower eyelid coloboma | 69% |
| Sparse lower eyelashes | 53% |
| Abnormality of the eyelashes | 50% |
| Atresia of the external auditory canal | 50% |
| Cleft eyelid | 50% |
| Conductive hearing impairment | 50% |
| Frontal bossing | 50% |
| Low anterior hairline | 50% |
| Reduced number of teeth | 50% |
| Strabismus | 50% |
| Visual impairment | 50% |
| Wide nasal bridge | 50% |
| Visual loss | 37% |
| Abnormality of the auditory canal | 36% |
| Cleft soft palate | 32% |
| Projection of scalp hair onto lateral cheek | 26% |
| Abnormality of cardiovascular system morphology | 7.5% |
| Abnormality of dental enamel | 7.5% |
| Abnormality of dental morphology | 7.5% |
| Abnormality of parotid gland | 7.5% |
| Abnormality of the adrenal glands | 7.5% |
| Abnormality of the thyroid gland | 7.5% |
| Aplasia/Hypoplasia affecting the eye | 7.5% |
| Aplasia/Hypoplasia of the thymus | 7.5% |
| Bilateral microphthalmos | 7.5% |
| Cataract | 7.5% |
| Choanal atresia | 7.5% |
| Cleft upper lip | 7.5% |
| Cognitive impairment | 7.5% |
| Cryptorchidism | 7.5% |
| Encephalocele | 7.5% |
| Facial cleft | 7.5% |
| Glossoptosis | 7.5% |
| Hypertelorism | 7.5% |
| Hypoplasia of penis | 7.5% |
| Hypoplasia of the pharynx | 7.5% |
| Iris coloboma | 7.5% |
| Lacrimal duct stenosis | 7.5% |
| Multiple enchondromatosis | 7.5% |
| Narrow mouth | 7.5% |
| Neurological speech impairment | 7.5% |
| Patent ductus arteriosus | 7.5% |
| Preauricular skin tag | 7.5% |
| Ptosis | 7.5% |
| Respiratory insufficiency | 7.5% |
| Scrotal hypoplasia | 7.5% |
| Tracheoesophageal fistula | 7.5% |
| Trismus | 7.5% |
| Upper eyelid coloboma | 7.5% |
| Urogenital fistula | 7.5% |
| Wide mouth | 7.5% |
| Intellectual disability | 5% |
| 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.
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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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