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Disease Profile
Treacher Collins syndrome
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
1-9 / 100 000
Age of onset
Neonatal
ICD-10
Q75.4
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
Treacher Collins-Franceschetti syndrome; Mandibulofacial dysostosis; TCOF;
Categories
Congenital and Genetic Diseases; Ear, Nose, and Throat Diseases; Eye diseases;
Summary
Treacher Collins
Symptoms
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 |
Small lower jaw
Small jaw
Little lower 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 |
Obstruction of the rear opening of the nasal cavity
Blockage 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 | |
Cause Treacher Collins
These genes appear to play important roles in the early development of bones and other DiagnosisMaking 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. Testing Resources
Treatment There is currently no cure for Treacher Collins
Newborns may need special positioning or tracheostomy to manage the airway. In many cases, craniofacial reconstruction is needed. Surgery may be performed to repair There are some possible treatments that are being investigated. Researchers are looking for ways to inhibit a Researchers are also studying the use of stems cells found in fat Management Guidelines
Related diseasesRelated 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.
OrganizationsSupport 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. Organizations Supporting this Disease
Learn moreThese 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. Where to Start
In-Depth Information
References
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