Treacher Collins syndrome
Encyclopedia
Treacher Collins syndrome (TCS), also known as Treacher Collins–Franceschetti syndrome, or mandibulofacial dysostosis is a rare autosomal
dominant congenital disorder
characterized by craniofacial
deformities
, such as absent cheekbones. Treacher Collins syndrome is found in about 1 in 10,000 births, (in the UK). In a number of cases a genetic origin is described. The typical physical features include downward slanting eyes, micrognathia (a small lower jaw), conductive hearing loss
, underdeveloped zygoma
, drooping part of the lateral lower eyelids, and malformed or absent ears.
(1862–1932), the English
surgeon
and ophthalmologist
who described its essential traits in 1900. In 1949 Franceschetti and Klein described the same condition on their own observations as mandibulofacial dysostosis. The term mandibulofacial dysostosis is used to describe the clinical features.
Nevertheless in 90-95% of the individuals with TCS a mutation in TCOF1 gene is identified. Investigation of the DNA resulted in the identification of the kind of mutations found in TCOF1. The majority of mutations are small deletions or insertion
s, though splice site and missense mutations also been identified. Mutation analysis has unveiled more than 100 disease-causing mutations in TCOF1, which are mostly family specific mutations. Only one recurrent mutation accounts for approximately 17% of the cases.
occurs when a diploid organism has only one functional copy of a gene, because the other copy is inactivated by a mutation. Thereby the other functional gene does not produce enough of a gene-product to have the expected function, resulting in an abnormal disease state.
Haploinsufficiency of the Treacle protein leads to a depletion of the neural crest cell precursor, which leads to a reduced number of crest cells migrating to the first and second pharyngeal arches. These crest cells play an important role in the development of the craniofacial appearance. So down regulation of Treacle expression results in craniofacial defects and growth retardation.
in TCS was not complete. Causes may be a variable expressivity, an incomplete penetrance or germline mosaicism
.
Only 40% of the mutations is inherited. The remaining 60% is a result of a de novo mutation. In the outcome of the disease there is a lot of inter- and intrafamilial variability. This suggests that when an affected child is born, it is important to investigate the parents if the affected gene is present. It could be possible that a parent has a mild and undiagnosed TCS. In this case the risk of having another affected child is 50%. If the parents do not have the affected gene, the recurrence risk appears to be low. In following generations the severity of the clinical symptoms is increasing.
Patients are mostly characterized by the following abnormalities:
The presence of an abnormally shaped skull is not distinctive for Treacher Collins Syndrome but brachycephaly
with bitemporal narrowing is sometimes observed.
Dental anomalies are seen in 60% of TCS patients. These anomalies consist in tooth agenesis (33%), enamel disformaties (20%) and malplacement of the maxillary first molars (13%). In some cases dental anomalies in combination with mandible hypoplasia result in a malocclusion, this can lead to problems with food intake and the ability to close the mouth.
Some features related to TCS are seen less frequently:
Facial deformity is nowadays still associated by the general public with developmental delay, and lesser intelligence, but intelligence of patients with TCS is usually normal. The psychological and social problems associated with facial deformity may affect quality of life in a number of patients.
The OMENS classification was developed as a comprehensive and stage-based approach to differentiate the diseases. This acronym describes five distinct dysmorphic manifestations, namely O; orbital asymmetry, M; mandibular hypoplasia, E; auricular deformity, N; nerve development and S; soft-tissue disease. The table below shows the OMENS classification in more detail.
Orbit
Mandible
Ear
Facial Nerve
Soft tissue
An OPG
is a panoramic dental X-ray of the upper and lower jaw. It shows a two-dimensional image from ear to ear. Particularly OPG facilitate an accurate post-operative follow-up and monitoring of bone growth under a mono or double-distractor treatment. Thereby some TCS features could be seen on orthopantogram, but there are better techniques to include the whole spectrum of TCS abnormalities instead of showing only the jaw abnormalities.
Another method of radiographic evaluation is taking a X-ray image of the whole head. The lateral cephalometric radiograph in TCS shows hypoplasia of the facial bones, like the malar bone, mandible and the mastoid.
Finally the occipitomental radiographs are used to detect hypoplasia or discontinuity of the zygomatic arch.
The oculoauriculovertebral spectrum should also be considered in the differential diagnosis. An example is Hemifacial Microsomia
which primarily affects development of the ear, mouth, and mandible. This anomaly may occur bilaterally. Another disease which belongs to this spectrum is the Goldenhar Syndrome
, which includes vertebral abnormalities, epibulbar dermoids and facial deformities.
The treatment of individuals affected by TCS needs a multidisciplinary approach and may involve the intervention of different professionals. The primary concerns in individuals with TCS are breathing and feeding problems, which are a consequence of the hypoplasia of the mandibula and the obstruction of the hypopharynx by the tongue. Sometimes even a tracheostomy is necessary to maintain an adequate airway. Also a gastrostomy
could be necessary to assure an adequate caloric intake while protecting the airway. Surgery to restore a normal structure of the face is normally performed at defined ages, depending on the development state.
An overview of the present guidelines:
Attempts to surgically reconstruct the external auditory canal and improve hearing in children with Treacher Collins Syndrome have not yielded positive results. Auditory rehabilitation with BAHA or a conventional bone conduction aid has proven preferable to surgical reconstruction.
For patients with Treacher Collins Syndrome, Bone Anchored Hearing Aid
(BAHA) provides several advantages:
BAHA is a solution that overcomes a conductive hearing loss resulting from the auricular malformations seen in Treacher Collins Syndrome. Great
improvements in language development have been reported after Baha fittings. Also, the Baha Softband provides the possibility of early aiding that is so important in this particular patient group
For Treacher Collins syndrome patients a proper management of symptoms and needs results in a life expectancy that approximates that of the general population.
article that was reprinted in numerous newspapers nationwide over the ensuing weeks, brought this malady to many people's attention for the first time.
Treacher Collins syndrome was featured in the 2005 Discovery Channel documentary, Unmasked: Treacher Collins Syndrome. As of 2008, it was still being shown on Discovery Health and the TLC channels.
The disorder was featured on the show Nip/Tuck
, in the episode "Blu Mondae."
TLC
's Born Without a Face features Juliana Wetmore, who was born with an unusually severe case of this syndrome and is missing 30%–40% of the bones in her face.
In 2010, BBC Three
documentary
Love Me, Love My Face covered the case of a man, Jono Lancaster, with the condition. In 2011, BBC Three returned to Jono to cover his and his partner Laura's quest to start a family, in So What If My Baby Is Born Like Me?, which first aired as part of a BBC Three season of programmes on parenting. The first film was replayed on BBC One
shortly ahead of the second film's initial BBC Three broadcast. Lancaster's third BBC Three film, Finding My Family on Facebook, which looked at adoption
, aired in 2011.
A young man with TCS was one of a number of people with various face/body-altering medical conditions or injuries to take part in Katie Piper
's 2011 Channel 4
television series Katie: My Beautiful Friends.
Autosome
An autosome is a chromosome that is not a sex chromosome, or allosome; that is to say, there is an equal number of copies of the chromosome in males and females. For example, in humans, there are 22 pairs of autosomes. In addition to autosomes, there are sex chromosomes, to be specific: X and Y...
dominant congenital disorder
Congenital disorder
A congenital disorder, or congenital disease, is a condition existing at birth and often before birth, or that develops during the first month of life , regardless of causation...
characterized by craniofacial
Craniofacial
Craniofacial may be used to describe certain congenital malformations, injuries, surgeons who subspecialize in this area, multi-disciplinary medical-surgical teams that treat and do research on disorders affecting this region, and organizations with interest in...
deformities
Deformity
A deformity, dysmorphism, or dysmorphic feature is a major difference in the shape of body part or organ compared to the average shape of that part.Deformity may arise from numerous causes:*A Genetic mutation*Damage to the fetus or uterus...
, such as absent cheekbones. Treacher Collins syndrome is found in about 1 in 10,000 births, (in the UK). In a number of cases a genetic origin is described. The typical physical features include downward slanting eyes, micrognathia (a small lower jaw), conductive hearing loss
Conductive hearing loss
Conductive hearing loss occurs when there is a problem conducting sound waves anywhere along the route through the outer ear, tympanic membrane , or middle ear ....
, underdeveloped zygoma
Zygoma
The term zygoma generally refers to the zygomatic bone, a bone of the human skull commonly referred to as the cheekbone or malar bone, but it may also refer to:...
, drooping part of the lateral lower eyelids, and malformed or absent ears.
Eponym
It is named after Edward Treacher CollinsEdward Treacher Collins
Edward Treacher Collins was an English surgeon and ophthalmologist. He is best known for describing the Treacher Collins syndrome....
(1862–1932), the English
England
England is a country that is part of the United Kingdom. It shares land borders with Scotland to the north and Wales to the west; the Irish Sea is to the north west, the Celtic Sea to the south west, with the North Sea to the east and the English Channel to the south separating it from continental...
surgeon
Surgery
Surgery is an ancient medical specialty that uses operative manual and instrumental techniques on a patient to investigate and/or treat a pathological condition such as disease or injury, or to help improve bodily function or appearance.An act of performing surgery may be called a surgical...
and ophthalmologist
Ophthalmology
Ophthalmology is the branch of medicine that deals with the anatomy, physiology and diseases of the eye. An ophthalmologist is a specialist in medical and surgical eye problems...
who described its essential traits in 1900. In 1949 Franceschetti and Klein described the same condition on their own observations as mandibulofacial dysostosis. The term mandibulofacial dysostosis is used to describe the clinical features.
Kind of mutation
TCOF1 is the only gene currently known to be associated with TCS. However in some individuals with typical symptoms of TCS, mutations in TCOF1 have not been found.Nevertheless in 90-95% of the individuals with TCS a mutation in TCOF1 gene is identified. Investigation of the DNA resulted in the identification of the kind of mutations found in TCOF1. The majority of mutations are small deletions or insertion
Insertion (genetics)
In genetics, an insertion is the addition of one or more nucleotide base pairs into a DNA sequence. This can often happen in microsatellite regions due to the DNA polymerase slipping...
s, though splice site and missense mutations also been identified. Mutation analysis has unveiled more than 100 disease-causing mutations in TCOF1, which are mostly family specific mutations. Only one recurrent mutation accounts for approximately 17% of the cases.
Function of the TCOF1 gene
TCOF1 codes for a relatively simple, nucleolar protein called Treacle. Mutations in TCOF1 lead to haploinsufficiency of the Treacle protein. HaploinsufficiencyHaploinsufficiency
Haploinsufficiency occurs when a diploid organism only has a single functional copy of a gene and the single functional copy of the gene does not produce enough of a gene product to bring about a wild-type condition, leading to an abnormal or diseased state...
occurs when a diploid organism has only one functional copy of a gene, because the other copy is inactivated by a mutation. Thereby the other functional gene does not produce enough of a gene-product to have the expected function, resulting in an abnormal disease state.
Haploinsufficiency of the Treacle protein leads to a depletion of the neural crest cell precursor, which leads to a reduced number of crest cells migrating to the first and second pharyngeal arches. These crest cells play an important role in the development of the craniofacial appearance. So down regulation of Treacle expression results in craniofacial defects and growth retardation.
Genetic counselling
TCS is inherited in an autosomal dominant manner and the penetrance of the affected gene is almost complete. On the other hand some recent investigations described some rare cases in which the penetrancePenetrance
Penetrance in genetics is the proportion of individuals carrying a particular variant of a gene that also express an associated trait . In medical genetics, the penetrance of a disease-causing mutation is the proportion of individuals with the mutation who exhibit clinical symptoms...
in TCS was not complete. Causes may be a variable expressivity, an incomplete penetrance or germline mosaicism
Germline Mosaicism
Germline mosaicism, also known as gonadal mosaicism, is a condition in which the precursor cells to ova and spermatazoa are a mixture of two or more genetically different cell lines....
.
Only 40% of the mutations is inherited. The remaining 60% is a result of a de novo mutation. In the outcome of the disease there is a lot of inter- and intrafamilial variability. This suggests that when an affected child is born, it is important to investigate the parents if the affected gene is present. It could be possible that a parent has a mild and undiagnosed TCS. In this case the risk of having another affected child is 50%. If the parents do not have the affected gene, the recurrence risk appears to be low. In following generations the severity of the clinical symptoms is increasing.
Signs
The presentation of symptoms in people with Treacher Collins Syndrome varies. Some individuals may be so mildly affected that they remain undiagnosed, others can have severe facial involvement and life-threatening airway compromise. Most of the features of TCS are bilateral and are already recognisable at birth. The most life threatening problem of individuals with TCS is a constricted airway, since this can give problems with breathing.Patients are mostly characterized by the following abnormalities:
- Hypoplasia of the facial bones. Most described is an underdeveloped mandibular and zygomatic bone. This leads to a small and malformed jaw. This mandible hypoplasia can result in a malocclusion.
- Ear anomalies. The external ear anomalies consist of small, rotated or even absent ears. Also symmetric, bilateral stenosis or atresia of the external auditory canals is described. In most cases, the ossicles and the middle ear cavity were dysmorphic. Inner ear malformations are rarely described. As a result of these abnormalities a majority of the individuals with TCS are dealing with conductive hearing loss.
- Most patients experience eye problems, varying from colobomata of the lower eyelids and aplasia of lid lashes to short, downslanting palpebral fissures and missing eyelashes. Vision loss can occur and is associated with strabismusStrabismusStrabismus is a condition in which the eyes are not properly aligned with each other. It typically involves a lack of coordination between the extraocular muscles, which prevents bringing the gaze of each eye to the same point in space and preventing proper binocular vision, which may adversely...
, refractive errors, and anisometropiaAnisometropiaAnisometropia is the condition in which the two eyes have unequal refractive power; that is, are in different states of myopia , hyperopia or in the extreme, antimetropia , the unequal refractive states cause unequal rotations thus leading to diplopia and asthenopia.Anisometropia can adversely...
. - Cleft palate
- Airway problems, which are often a result of mandibular hypoplasiaHypoplasiaHypoplasia is underdevelopment or incomplete development of a tissue or organ. Although the term is not always used precisely, it properly refers to an inadequate or below-normal number of cells. Hypoplasia is similar to aplasia, but less severe. It is technically not the opposite of hyperplasia...
.
The presence of an abnormally shaped skull is not distinctive for Treacher Collins Syndrome but brachycephaly
Brachycephaly
Brachycephaly, also known as flat head syndrome, is a type of cephalic disorder. This can result from premature fusion of the coronal sutures or from external deformation . The coronal suture is the fibrous joint that unites the frontal bone with the two parietal bones of the skull. The parietal...
with bitemporal narrowing is sometimes observed.
Dental anomalies are seen in 60% of TCS patients. These anomalies consist in tooth agenesis (33%), enamel disformaties (20%) and malplacement of the maxillary first molars (13%). In some cases dental anomalies in combination with mandible hypoplasia result in a malocclusion, this can lead to problems with food intake and the ability to close the mouth.
Some features related to TCS are seen less frequently:
- Nasal deformity
- High-arched palate
- ColobomaColobomaA coloboma is a hole in one of the structures of the eye, such as the iris, retina, choroid or optic disc...
of the upper lid - Ocular hypertelorismHypertelorismHypertelorism is an abnormally increased distance between two organs or bodily parts, usually referring to an increased distance between the orbits . In this condition the distance between the inner eye corners as well as the distance between the pupils is greater than normal...
- Choanal atresia
- MacrostomiaMacrostomiaMacrostomia refers to a mouth that is unusually wide.Some cases are treated with surgery.-References:...
- Preauricular hair displacement
Facial deformity is nowadays still associated by the general public with developmental delay, and lesser intelligence, but intelligence of patients with TCS is usually normal. The psychological and social problems associated with facial deformity may affect quality of life in a number of patients.
Diagnosis
The diagnosis of Treacher Collins Syndrome relies upon clinical and radiographic findings.Clinical findings
There is a set of typical symptoms within Treacher Collins Syndrome. Those symptoms can be detected by a critical clinical view. The wide spectrum of diseases which have similar characteristics make it sometimes difficult to diagnose TCS.The OMENS classification was developed as a comprehensive and stage-based approach to differentiate the diseases. This acronym describes five distinct dysmorphic manifestations, namely O; orbital asymmetry, M; mandibular hypoplasia, E; auricular deformity, N; nerve development and S; soft-tissue disease. The table below shows the OMENS classification in more detail.
Orbit
- O0: normal orbital size, position
- O1: abnormal orbital size
- O2: abnormal orbital position
- O3: abnormal orbital size and position
Mandible
- M0: normal mandible
- M1: small mandible and glenoid fossa with short ramus
- M2: ramus short and abnormally shaped
- 2A: glenoid fossaMandibular fossaThe mandibular fossa is the depression in the temporal bone that articulates with the mandibular condyle. In the temporal bone, the mandibular fossa is bounded, in front, by the articular tubercle; behind, by the tympanic part of the bone, which separates it from the external acoustic meatus; it is...
in anatomical acceptable position - 2B: Temperomandibular joint inferiorly (TMJ), medially, anteriorly displaced, with severely hypoplastic condyle
- M3: Complete absence of ramus, glenoid fossa and TMJ
Ear
- E0: normal ear
- E1: Minor hypoplasia and cupping with all structures present
- E2: Absence of external auditory cannel with variable hypoplasia of the concha
- E3: Malposition of the lobule with absent auricle, lobular remnant usually inferior anteriorly displaced
Facial Nerve
- N0: No facial nerveFacial nerveThe facial nerve is the seventh of twelve paired cranial nerves. It emerges from the brainstem between the pons and the medulla, and controls the muscles of facial expression, and functions in the conveyance of taste sensations from the anterior two-thirds of the tongue and oral cavity...
involvement - N1: Upper facial nerve involvement (temporal or zygomatic branches)
- N2: Lower facial nerve involvement (buccal, mandibular or cervical)
- N3: All branches affected
Soft tissue
- S0: No soft tissue or muscle deficiency
- S1: Minimal tissue or muscle deficiency
- S2: Moderate tissue or muscle deficiency
- S3: Severe tissue or muscle deficiency
Radiological findings
Thereby the radiographic manifestations should confirm the diagnosis. The radiographic evaluation consists radiographs using X-ray and a CT-scanRadiographs
There are a few techniques which are used to confirm the diagnosis in TCS.An OPG
Orthopantomogram
An Orthopantomogram or Dental Panoramic Radiograph , also known as an "orthopantogram" or "panorex", is a panoramic scanning dental X-ray of the upper and lower jaw. It shows a two-dimensional view of a half-circle from ear to ear. An OPT relies on tomography i.e...
is a panoramic dental X-ray of the upper and lower jaw. It shows a two-dimensional image from ear to ear. Particularly OPG facilitate an accurate post-operative follow-up and monitoring of bone growth under a mono or double-distractor treatment. Thereby some TCS features could be seen on orthopantogram, but there are better techniques to include the whole spectrum of TCS abnormalities instead of showing only the jaw abnormalities.
Another method of radiographic evaluation is taking a X-ray image of the whole head. The lateral cephalometric radiograph in TCS shows hypoplasia of the facial bones, like the malar bone, mandible and the mastoid.
Finally the occipitomental radiographs are used to detect hypoplasia or discontinuity of the zygomatic arch.
CT-scan
A temporal bone CT using thin slices makes it possible to diagnose the degree of stenosis and atresia of the external auditory channel, the status of the middle ear cavity, the absent or dysplastic and rudimentary ossicles or the inner ear abnormalities such as a deficient cochlea. Two dimensional and 3D CT reconstructions with VRT and bone and skin-surfacing are helpful for more accurate staging and the 3-D planning of mandibular and external ear reconstructive surgery. Despite of the clear image, there is an important disadvantage by using the CT-scan. Especially the high radiation dose causes damage by repeated use of this radiographic method.Differential diagnosis
There are other diseases which have similar characteristics as Treacher Collins Syndrome. In the differential diagnosis one should consider the acrofacial dysostoses. The facial appearance resembles that of Treacher Collins Syndrome, but there are additional limb abnormalities in those patients. Examples of these diseases are the Nager Syndrome and the Miller Syndrome.The oculoauriculovertebral spectrum should also be considered in the differential diagnosis. An example is Hemifacial Microsomia
Hemifacial microsomia
Hemifacial microsomia is a congenital disorder that affects the development of the lower half of the face, most commonly the ears, the mouth and the mandible. It can occur on one side of the face or both. If severe it can lead to difficulties in breathing, obstructing the trachea and requiring a...
which primarily affects development of the ear, mouth, and mandible. This anomaly may occur bilaterally. Another disease which belongs to this spectrum is the Goldenhar Syndrome
Goldenhar syndrome
Goldenhar syndrome is a rare congenital defect characterized by incomplete development of the ear, nose, soft palate, lip, and mandible. It is associated with anomalous development of the first branchial arch and second branchial arch...
, which includes vertebral abnormalities, epibulbar dermoids and facial deformities.
Management
The treatment of TCS should be tailored to the specific symptoms and needs of each individual.The treatment of individuals affected by TCS needs a multidisciplinary approach and may involve the intervention of different professionals. The primary concerns in individuals with TCS are breathing and feeding problems, which are a consequence of the hypoplasia of the mandibula and the obstruction of the hypopharynx by the tongue. Sometimes even a tracheostomy is necessary to maintain an adequate airway. Also a gastrostomy
Gastrostomy
Gastrostomy refers to a surgical opening into the stomach. Creation of an artificial external opening into the stomach for nutritional support or gastrointestinal compression....
could be necessary to assure an adequate caloric intake while protecting the airway. Surgery to restore a normal structure of the face is normally performed at defined ages, depending on the development state.
An overview of the present guidelines:
- If there is a cleft palate, the repair normally takes place at the age of 9–12 months. Before surgery, it is necessary to perform a polysomnographyPolysomnographyPolysomnography , also known as a sleep study, is a multi-parametric test used in the study of sleep and as a diagnostic tool in sleep medicine. The test result is called a polysomnogram, also abbreviated PSG...
with a palatal plate in place, this may predict the postoperative situation and gives insight on the chance of the presence of OSASSleep apneaSleep apnea is a sleep disorder characterized by abnormal pauses in breathing or instances of abnormally low breathing, during sleep. Each pause in breathing, called an apnea, can last from a few seconds to minutes, and may occur 5 to 30 times or more an hour. Similarly, each abnormally low...
after the operation. - The hearing loss is treated by bone conduction amplification, speech therapy and educational intervention to avoid language/speech problems. The bone-anchored hearing aidBone Anchored Hearing AidA Bone-anchored hearing aid is a type of hearing aid based on bone conduction. It is primarily suited to people who have conductive hearing losses, unilateral hearing loss and people with mixed hearing losses who cannot otherwise wear 'in the ear' or 'behind the ear' hearing aids...
(Baha) is an alternative for individuals with ear anomalies - The zygomatic and orbital reconstruction is performed when the cranio-orbitozygomatic bone is completely developed. Usually at the age of 5–7 years. In children an autologous bone graft is mostly used. In combination with this transplantation, lipofilling can be used in the periorbital area to get an optimal result of the reconstruction.
- The reconstruction of the lower eyelid ColobomaColobomaA coloboma is a hole in one of the structures of the eye, such as the iris, retina, choroid or optic disc...
includes the use of a myocutaneous flap, which is elevated and in this manner closes the eyelid defect. - The external ear reconstruction is usually done when the individual is at least 8 years old. Sometimes also the external auditory canal or middle ear can be treated.
- The optimal age for the maxillomandibular reconstruction is still a major point of discussion, at present, this classification is generally used:
- Type I (mild) and Type IIa (moderate) 13–16 years
- Type IIb (moderate to severe malformation) at skeletal maturity
- Type III (severe) 6–10 years
- When the teeth are cutting, the teeth should be under supervision of an orthodontist to make sure that there are no abnormalities. If abnormalities like dislocation or an overgrowth of teeth are seen, appropriate action can be undertaken as soon as possible.
- Orthognatic treatments usually take place after the age of 16 years; at this point all teeth are cut and the jaw and dentures are mature. Whenever OSAS is detected, the level of obstruction is determined through endoscopy of the upper airways. Mandibular advancement can be an effective way to improve both breathing and æsthetics, while a chinplasty only restores the profile.
- If a nose reconstruction is necessary it is usually performed after the orthognatic surgery and after the age of 18 years.
- The contour of the facial soft tissues generally requires correction at a later age, because of the facial skeletal maturity. The use of microsurgical methods, like the free flap transfer, has improved the correction of facial soft tissue contours. Another technique to improve the facial soft tissue contours is lipofilling. For instance, lipofilling is used to reconstruct the eyelids.
Hearing loss
Hearing loss in Treacher Collins Syndrome is caused by deformed structures in the outer and middle ear. The hearing loss is generally bilateral with a conductive loss of about 50-70 dB. Even in cases with normal auricles and open external auditory canals,the ossicular chain is often malformed.Attempts to surgically reconstruct the external auditory canal and improve hearing in children with Treacher Collins Syndrome have not yielded positive results. Auditory rehabilitation with BAHA or a conventional bone conduction aid has proven preferable to surgical reconstruction.
For patients with Treacher Collins Syndrome, Bone Anchored Hearing Aid
Bone Anchored Hearing Aid
A Bone-anchored hearing aid is a type of hearing aid based on bone conduction. It is primarily suited to people who have conductive hearing losses, unilateral hearing loss and people with mixed hearing losses who cannot otherwise wear 'in the ear' or 'behind the ear' hearing aids...
(BAHA) provides several advantages:
- As early aiding is of the utmost importance for this patient group, the Baha Softband facilitates normal language development
- Pure tone audiometry (PTA) threshold improvements in the speech spectrum of >40dB have been reported using the Baha Softband in pediatric users with craniofacial anomalies
- Compared to a conventional bone conduction aid, Baha provides better outcomes both audiologically and esthetically
- Compared to surgical reconstruction, Baha provides more reliable outcomes and superior audiological results
- Spontaneous improvement in the quality, pitch and intensity of a patient’s own voice may be seen after Baha aiding
BAHA is a solution that overcomes a conductive hearing loss resulting from the auricular malformations seen in Treacher Collins Syndrome. Great
improvements in language development have been reported after Baha fittings. Also, the Baha Softband provides the possibility of early aiding that is so important in this particular patient group
For Treacher Collins syndrome patients a proper management of symptoms and needs results in a life expectancy that approximates that of the general population.
Media portrayals
A July 1977 New York TimesThe New York Times
The New York Times is an American daily newspaper founded and continuously published in New York City since 1851. The New York Times has won 106 Pulitzer Prizes, the most of any news organization...
article that was reprinted in numerous newspapers nationwide over the ensuing weeks, brought this malady to many people's attention for the first time.
Treacher Collins syndrome was featured in the 2005 Discovery Channel documentary, Unmasked: Treacher Collins Syndrome. As of 2008, it was still being shown on Discovery Health and the TLC channels.
The disorder was featured on the show Nip/Tuck
Nip/Tuck
Nip/Tuck is an American drama series created by Ryan Murphy, which aired on FX in the United States. The series focuses on McNamara/Troy, a plastic surgery practice, and follows its founders, Sean McNamara and Christian Troy...
, in the episode "Blu Mondae."
TLC
TLC (TV channel)
TLC is an American cable TV specialty channel which initially focused on educational content. Since 1991 TLC has been owned by Discovery Communications, the same company that operates the Discovery Channel, Animal Planet and The Science Channel, as well as other learning-themed networks...
's Born Without a Face features Juliana Wetmore, who was born with an unusually severe case of this syndrome and is missing 30%–40% of the bones in her face.
In 2010, BBC Three
BBC Three
BBC Three is a television network from the BBC broadcasting via digital cable, terrestrial, IPTV and satellite platforms. The channel's target audience includes those in the 16-34 year old age group, and has the purpose of providing "innovative" content to younger audiences, focusing on new talent...
documentary
Documentary
A documentary is a creative work of non-fiction, including:* Documentary film, including television* Radio documentary* Documentary photographyRelated terms include:...
Love Me, Love My Face covered the case of a man, Jono Lancaster, with the condition. In 2011, BBC Three returned to Jono to cover his and his partner Laura's quest to start a family, in So What If My Baby Is Born Like Me?, which first aired as part of a BBC Three season of programmes on parenting. The first film was replayed on BBC One
BBC One
BBC One is the flagship television channel of the British Broadcasting Corporation in the United Kingdom. It was launched on 2 November 1936 as the BBC Television Service, and was the world's first regular television service with a high level of image resolution...
shortly ahead of the second film's initial BBC Three broadcast. Lancaster's third BBC Three film, Finding My Family on Facebook, which looked at adoption
Adoption
Adoption is a process whereby a person assumes the parenting for another and, in so doing, permanently transfers all rights and responsibilities from the original parent or parents...
, aired in 2011.
A young man with TCS was one of a number of people with various face/body-altering medical conditions or injuries to take part in Katie Piper
Katie Piper
Katie Piper is a former model and television presenter from Andover, Hampshire in England, UK. Piper had hoped to have a full-time career in the media, but in March 2008 she was the victim of an acid attack in which sulphuric acid was thrown at her face...
's 2011 Channel 4
Channel 4
Channel 4 is a British public-service television broadcaster which began working on 2 November 1982. Although largely commercially self-funded, it is ultimately publicly owned; originally a subsidiary of the Independent Broadcasting Authority , the station is now owned and operated by the Channel...
television series Katie: My Beautiful Friends.
External links
- a Personal View of Treacher Collins Syndrome
- a Map to help TCS People find each other
- GeneReview/NCBI/NIH/UW entry on Treacher Collins Syndrome
- http://www.friendlyfaces.org/ is a resource for, and network of, individuals with facial differences, parents, families, friends, and health care professionals