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.
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%|
|Hypoplasia of the zygomatic bone||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%|
|Conductive hearing impairment||50%|
|Low anterior hairline||50%|
|Reduced number of teeth||50%|
|Wide nasal bridge||50%|
|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%|
|Cleft upper lip||7.5%|
|Hypoplasia of penis||7.5%|
|Hypoplasia of the pharynx||7.5%|
|Lacrimal duct stenosis||7.5%|
|Neurological speech impairment||7.5%|
|Patent ductus arteriosus||7.5%|
|Preauricular skin tag||7.5%|
|Upper eyelid coloboma||7.5%|
|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.
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.
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The doctor said he cannot detect the baby's face in my 14 week ultrasound. Is this early enough to determine Treacher Collins syndrome? See answer
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