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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Treacher Collins syndrome


Other Names for this Disease

  • Mandibulofacial dysostosis
  • MFD1
  • TCOF
  • TCS
  • Treacher Collins-Franceschetti syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Symptoms

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What are the signs and symptoms of Treacher Collins syndrome?

The signs and symptoms of Treacher Collins syndrome vary greatly, ranging from almost unnoticeable to severe. Most affected individuals have underdeveloped facial bones, particularly the cheek bones, and a very small jaw and chin (micrognathia). Some people with this condition are also born with an opening in the roof of the mouth called a cleft palate. In severe cases, underdevelopment of the facial bones may restrict an affected infant's airway, causing potentially life-threatening respiratory problems.[1]

People with Treacher Collins syndrome often have eyes that slant downward, sparse eyelashes, and a notch in the lower eyelids called a coloboma. Some affected individuals have additional eye abnormalities that can lead to vision loss. This 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 cases. People with Treacher Collins syndrome usually have normal intelligence.[1] 

You can read additional information regarding the features of Treacher Collins syndrome through MedlinePlus and GeneReviews.

Last updated: 2/28/2011

The Human Phenotype Ontology provides the following list of signs and symptoms for Treacher Collins syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms.

Signs and Symptoms Approximate number of patients (when available)
Abnormality of bone mineral density 90%
Cheekbone underdevelopment 90%
Dental malocclusion 90%
Downslanted palpebral fissures 90%
Malar flattening 90%
Micrognathia 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 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 palate 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%
Malformation of the heart and great vessels 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 -
Cleft palate -

Last updated: 9/2/2014

The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature.

The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined.

Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


References
  1. Treacher Collins syndrome. Genetics Home Reference (GHR). 2006; http://ghr.nlm.nih.gov/condition/treacher-collins-syndrome. Accessed 2/28/2011.


Other Names for this Disease
  • Mandibulofacial dysostosis
  • MFD1
  • TCOF
  • TCS
  • Treacher Collins-Franceschetti syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.