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
You can read additional information about the features of Treacher Collins syndrome through MedlinePlus and GeneReviews.
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
Medical Terms | Other Names | Learn More: HPO ID |
---|---|---|
80%-99% of people have these symptoms | ||
Abnormality of bone mineral density | 0004348 | |
Downslanted palpebral fissures |
Downward slanting of the opening between the eyelids
|
0000494 |
Hypoplasia of the maxilla |
Decreased size of maxilla
Decreased size of upper jaw
Maxillary deficiency
Maxillary retrusion
Small maxilla
Small upper jaw
Small upper jaw bones
Upper jaw deficiency
Upper jaw retrusion
[ more ]
|
0000327 |
Hypoplasia of the zygomatic bone |
Cheekbone underdevelopment
Decreased size of cheekbone
Underdevelopment of cheekbone
[ more ]
|
0010669 |
Malar flattening |
Zygomatic flattening
|
0000272 |
Micrognathia |
Little lower jaw
Small lower jaw
Small jaw
[ more ]
|
0000347 |
Midface retrusion |
Decreased size of midface
Midface deficiency
Underdevelopment of midface
[ more ]
|
0011800 |
Open bite |
Absence of overlap of upper and lower teeth
Open bite between upper and lower teeth
[ more ]
|
0010807 |
Retrognathia |
Receding chin
Receding lower jaw
Weak chin
Weak jaw
[ more ]
|
0000278 |
Short face |
Decreased height of face
Decreased length of face
Vertical shortening of face
[ more ]
|
0011219 |
Skeletal dysplasia | 0002652 | |
30%-79% of people have these symptoms | ||
Absent eyelashes |
Failure of development of eyelashes
|
0000561 |
Conductive hearing impairment |
Conductive hearing loss
Conductive deafness
[ more ]
|
0000405 |
Eyelid coloboma |
Cleft eyelid
Notched eyelid
[ more ]
|
0000625 |
Frontal bossing | 0002007 | |
Iris coloboma |
Cat eye
|
0000612 |
Low anterior hairline |
Low frontal hairline
Low-set frontal hairline
[ more ]
|
0000294 |
Microtia |
Underdeveloped ears
Small ears
[ more ]
|
0008551 |
Narrow internal auditory canal | 0011386 | |
Reduced number of teeth |
Decreased tooth count
|
0009804 |
Cross-eyed
Squint
Squint eyes
[ more ]
|
0000486 | |
Visual impairment |
Impaired vision
Loss of eyesight
Poor vision
[ more ]
|
0000505 |
Wide nasal bridge |
Broad nasal bridge
Broad nasal root
Broadened nasal bridge
Increased breadth of bridge of nose
Increased breadth of nasal bridge
Increased width of bridge of nose
Increased width of nasal bridge
Nasal bridge broad
Wide bridge of nose
Widened nasal bridge
[ more ]
|
0000431 |
5%-29% of people have these symptoms | ||
Abnormality of dental enamel |
Abnormal tooth enamel
Enamel abnormalities
Enamel abnormality
[ more ]
|
0000682 |
Abnormality of dental morphology |
Abnormality of dental shape
Abnormally shaped teeth
Deformity of teeth
Dental deformity
Dental malformations
Malformed teeth
Misshapen teeth
Misshapened teeth
[ more ]
|
0006482 |
Abnormality of the adrenal glands |
Adrenal abnormalities
|
0000834 |
Abnormality of the vertebral column |
Abnormal spine
Abnormal vertebral column
Abnormality of the spine
[ more ]
|
0000925 |
Blepharospasm |
Eyelid spasm
Eyelid twitching
Involuntary closure of eyelid
Spontaneous closure of eyelid
[ more ]
|
0000643 |
Brachycephaly |
Short and broad skull
|
0000248 |
Branchial fistula | 0009795 | |
Clouding of the lens of the eye
Cloudy lens
[ more ]
|
0000518 | |
Choanal atresia |
Blockage of the rear opening of the nasal cavity
Obstruction of the rear opening of the nasal cavity
[ more ]
|
0000453 |
Cleft palate |
Cleft roof of mouth
|
0000175 |
Cleft upper lip |
Harelip
|
0000204 |
Cryptorchidism |
Undescended testes
Undescended testis
[ more ]
|
0000028 |
Dysphasia | 0002357 | |
Encephalocele | 0002084 | |
Facial cleft |
Cleft of the face
|
0002006 |
Failure to thrive |
Faltering weight
Weight faltering
[ more ]
|
0001508 |
Global |
0001263 | |
Glossoptosis |
Retraction of the tongue
|
0000162 |
High palate |
Elevated palate
Increased palatal height
[ more ]
|
0000218 |
Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ]
|
0000316 |
Hypoplasia of penis |
Underdeveloped penis
|
0008736 |
Hypoplasia of the thymus |
Small thymus
|
0000778 |
Microphthalmia |
Abnormally small eyeball
|
0000568 |
Multiple enchondromatosis | 0005701 | |
Narrow mouth |
Small mouth
|
0000160 |
Patent ductus arteriosus | 0001643 | |
Preauricular skin tag | 0000384 | |
Rectovaginal fistula |
Abnormal connection between rectum and vagina
|
0000143 |
Respiratory insufficiency |
Respiratory impairment
|
0002093 |
Scrotal hypoplasia |
Smaller than typical growth of scrotum
|
0000046 |
Thyroid hypoplasia | 0005990 | |
Tracheoesophageal fistula | 0002575 | |
Wide mouth |
Broad mouth
Large mouth
[ more ]
|
0000154 |
1%-4% of people have these symptoms | ||
Atresia of the external auditory canal |
Absent ear canal
|
0000413 |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
|
0001249 | |
Preauricular hair displacement |
Hair growing down to cheek
Projection of scalp hair onto lateral cheek
[ more ]
|
0009554 |
Upper eyelid coloboma |
Cleft upper eyelid
Notched upper eyelid
[ more ]
|
0000636 |
Percent of people who have these symptoms is not available through HPO | ||
Abnormal heart morphology |
Abnormality of the heart
Abnormally shaped heart
Heart defect
[ more ]
|
0001627 |
Abnormal parotid gland morphology | 0000197 | |
0000006 | ||
Bilateral microphthalmos |
Abnormally small eyeball on both sides
|
0007633 |
Cleft soft palate | 0000185 | |
Hypoplasia of the pharynx | 0009555 | |
Lacrimal duct stenosis |
Narrowing of the tear duct
|
0007678 |
Lower eyelid coloboma |
Cleft lower eyelid
Notched lower eyelid
[ more ]
|
0000652 |
Drooping upper eyelid
|
0000508 | |
Sparse lower eyelashes |
Scanty lower eyelashes
Thin lower eyelashes
[ more ]
|
0007776 |
Visual loss |
Loss of vision
Vision loss
[ more ]
|
0000572 |
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.
If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.
If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.
You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Conditions with similar signs and symptoms from Orphanet
|
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Differential diagnoses include Nager and Miller syndromes and Goldenhar syndrome (see these terms), in its bilateral and slightly asymmetrical form.
Visit the
Orphanet disease page
for more information.
|
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.
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s 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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