Treacher-collins syndrome

Symptoms

If someone has Treacher Collins syndrome (TCS), will they always show symptoms?

The symptoms of Treacher Collins syndrome (TCS) may be so mild in some people that they are not diagnosed with TCS. Sometimes parents are not diagnosed until they have a child who has more apparent features of the condition. This shows that even within the same family there can be a wide range of the symptoms present and in the degree of facial involvement. Some individuals may appear to have very subtle facial differences and no medical problems related to TCS. Some may have mild or very few medical needs.

The best person to diagnose and discuss the symptoms of TCS is a geneticist or a specialist with a craniofacial clinic. Ask your doctor to recommend a specialist or clinic in your area. To find a genetics clinic you can search on the American College of Medical Genetics for a genetics clinic near you. A craniofacial team in your area may be found by using the list provided by FACES: The National Craniofacial Association under "Medical Centers".

References
  • Treacher Collins Syndrome - NORD (National Organization for Rare Disorders). (2013). Retrieved February 29, 2016, from http://rarediseases.org/rare-diseases/treacher-collins-syndrome/
  • Katsanis SH, Jabs EW. Treacher Collins Syndrome. 2004 Jul 20 [Updated 2012 Aug 30]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1532/
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More Symptoms Content

What are the main symptoms of Treacher Collins syndrome (TCS)?

Are there earlier onset, later onset, or variant forms of Treacher Collins syndrome (TCS)?

What health problems should I look for in Treacher Collins syndrome (TCS)?

Any other diseases that look a lot like Treacher Collins syndrome (phenocopies, differential diagnoses)?

What are the main symptoms of Treacher Collins syndrome (TCS)?

Treacher Collins syndrome (TCS) is a genetic condition that affects the structures of the face. The symptoms are variable and can include:

• Underdeveloped cheekbones

• Droopy or down-slanting eyes with notched lower lids

• Absence of the lower eyelashes

• Low-set, unusually shaped, small or absent ears

• Small jawbone

• Hearing loss caused by differences in the shape of ears and ear canal

• Cleft palate (opening in the roof of the mouth)

• Vision issues

These features may cause breathing problems, feeding issues, hearing/ speech difficulties and vision issues. Intelligence is usually normal.

The best person to diagnose and discuss the symptoms of TCS is a geneticist or a specialist with a craniofacial clinic. Ask your doctor to recommend a specialist or clinic in your area. To find a genetics clinic you can search on the American College of Medical Genetics for a genetics clinic near you. A craniofacial team in your area may be found by using the list provided by FACES: The National Craniofacial Association under "Medical Centers".

References
  • Jones, K. L., & Smith, D. W. (2006). Smith's recognizable patterns of human malformation (6th ed.). Philadelphia: Elsevier Saunders.
  • Katsanis SH, Jabs EW. Treacher Collins Syndrome. 2004 Jul 20 [Updated 2012 Aug 30]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1532/
Are there earlier onset, later onset, or variant forms of Treacher Collins syndrome (TCS)?

The physical signs of Treacher Collins syndrome (TCS) are present at birth. Some individuals may have such mild symptoms that they may not be diagnosed with the condition. Those who have very mild features may be diagnosed after x-ray and a careful medical exam by a geneticist. Sometimes parents are diagnosed only after having a child with more recognizable features of TCS.

There are several different genes that cause TCS. Some might consider TCS inherited from a different gene to be a variant. However, each of the genes causes the same features of the condition.

The best person to diagnose and discuss the symptoms of TCS is a geneticist or a specialist with a craniofacial clinic. Ask your doctor to recommend a specialist or clinic in your area. To find a genetics clinic you can search on the American College of Medical Genetics for a genetics clinic near you. A craniofacial team in your area may be found by using the list provided by FACES: The National Craniofacial Association under "Medical Centers".

References
  • Treacher Collins Syndrome - NORD (National Organization for Rare Disorders). (2013). Retrieved February 29, 2016, from http://rarediseases.org/rare-diseases/treacher-collins-syndrome/
  • Katsanis SH, Jabs EW. Treacher Collins Syndrome. 2004 Jul 20 [Updated 2012 Aug 30]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1532/
What health problems should I look for in Treacher Collins syndrome (TCS)?

Individuals with Treacher Collins syndrome (TCS) may have differences of the skull and face that may affect their ability to hear, breathe, and eat. Some individuals with may have vision issues. Some may have hearing loss or a cleft palate (opening in the roof of the mouth), both of which can lead to speech difficulties. Bone and dental problems as well as psychological issues due to appearance may be present. Since the features of this disorder are highly variable, some people with TCS may have very mild or no medical needs related to the condition. Intelligence is typically normal.

After the initial diagnosis of TCS has been made, the following evaluations are recommended to determine the extent to which an individual is affected and what treatments may be needed.

1. Evaluate the narrowness of the airways that may cause difficulty breathing;

2. Assess the palate (roof of the mouth) for a cleft (opening);

3. Evaluate how well the person can swallow;

4. Formal hearing examination;

5. Eye exam;

6. Dental exam when teeth have come up.

Particular attention should be paid to breathing difficulties in infancy because they can be life-threatening if not treated properly. Special positioning of the infant to help keep the airway open may be used. Some children with severe breathing difficulty may require intubation (a breathing tube inserted). Sometimes surgery may be required to open the breathing passages. A feeding tube is sometimes needed to make sure enough calories are taken in while protecting the airway because severe breathing problems require a lot of energy and a person cannot breath and eat at the same time. An evaluation for sleep apnea (where an individual stops breathing while sleeping) should also be performed.

Education and psychological issues should also be considered especially as the child child gets older. Accommodations for sight or hearing issues might need to be made in the classroom. Additionally, if cleft palate or hearing loss are present, speech delay can be concern. Psychological issues regarding appearance and integration into school should be discussed.

The best person to diagnose and discuss the symptoms of TCS is a geneticist or the specialists with a craniofacial clinic. Ask your doctor to recommend a specialist or clinic in your area. To find a genetics clinic you can search on the American College of Medical Genetics for a genetics clinic near you. A craniofacial team in your area may be found by using the list provided by FACES: The National Craniofacial Association under "Medical Centers".

References
  • Jones, K. L., & Smith, D. W. (2006). Smith's recognizable patterns of human malformation (6th ed.). Philadelphia: Elsevier Saunders.
  • Katsanis SH, Jabs EW. Treacher Collins Syndrome. 2004 Jul 20 [Updated 2012 Aug 30]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1532/
Any other diseases that look a lot like Treacher Collins syndrome (phenocopies, differential diagnoses)?

There are several different conditions that share features of Treacher Collins syndrome (TCS). In many of these conditions there are differences that may lead to one diagnosis being more likely than another.

  • Nager syndrome--usually has differences of the hand
  • Miller syndrome--may also include limb differences
  • Hemifacial microsomia
  • Goldenhar syndrome--notching of the eyelid occurs in the top eyelid and often asymmetric, compared to notching of the lower eyelid in TCS
  • Pierre Robin sequence
  • Toriello syndrome
  • Bauru syndrome
  • Hedera-Toriello-Petty syndrome
  • Guion-Almeida syndrome
  • Nonsyndromic mandibular hypoplasia

The best person to diagnose TCS and differentiate between other genetic conditions is a geneticist. Ask your doctor to recommend a geneticist in your area. To find a genetics clinic you can search on the American College of Medical Genetics for a genetics clinic near you.

References
  • Treacher Collins Syndrome - NORD (National Organization for Rare Disorders). (2013). Retrieved February 29, 2016, from http://rarediseases.org/rare-diseases/treacher-collins-syndrome/
  • Katsanis SH, Jabs EW. Treacher Collins Syndrome. 2004 Jul 20 [Updated 2012 Aug 30]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1532/

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