Treacher Collins syndrome (TCS) is a
genetic disorder
A genetic disorder is a health problem caused by one or more abnormalities in the genome. It can be caused by a mutation in a single gene (monogenic) or multiple genes (polygenic) or by a chromosomal abnormality. Although polygenic disorders ...
characterized by deformities of the ears, eyes, cheekbones, and chin.
[ The degree to which a person is affected, however, may vary from mild to severe.][ Complications may include breathing problems, problems seeing, ]cleft palate
A cleft lip contains an opening in the upper lip that may extend into the nose. The opening may be on one side, both sides, or in the middle. A cleft palate occurs when the palate (the roof of the mouth) contains an opening into the nose. The te ...
, and hearing loss
Hearing loss is a partial or total inability to Hearing, hear. Hearing loss may be present at birth or acquired at any time afterwards. Hearing loss may occur in one or both ears. In children, hearing problems can affect the ability to Language ...
.[ Those affected generally have normal intelligence.][
TCS is usually ]autosomal dominant
In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the effect of a different variant of the same gene on the other copy of the chromosome. The first variant is termed dominant and t ...
.[ More than half the time it occurs as a result of a new ]mutation
In biology, a mutation is an alteration in the nucleic acid sequence of the genome of an organism, virus, or extrachromosomal DNA. Viral genomes contain either DNA or RNA. Mutations result from errors during DNA or viral replication, mi ...
rather than being inherited from a person's parents.[ The involved genes may include '']TCOF1
Treacle protein is a protein that in humans is encoded by the ''TCOF1'' gene.
This gene encodes a nucleolar protein with an LIS1 homology domain. The protein is involved in ribosomal DNA gene transcription through its interaction with upstream b ...
'', ''POLR1C
DNA-directed RNA polymerases I and III subunit RPAC1 is a protein that in humans is encoded by the ''POLR1C'' gene.
Interactions
POLR1C has been shown to interact with CD3EAP, POLR1E and POLR1D
DNA-directed RNA polymerases I and III subunit ...
'', or ''POLR1D
DNA-directed RNA polymerases I and III subunit RPAC2 is a protein that in humans is encoded by the ''POLR1D'' gene.
Interactions
POLR1D has been shown to Protein-protein_interaction, interact with POLR1C.
References
Further reading
...
''.[ Diagnosis is generally suspected based on symptoms and ]X-rays
An X-ray, or, much less commonly, X-radiation, is a penetrating form of high-energy electromagnetic radiation. Most X-rays have a wavelength ranging from 10 Picometre, picometers to 10 Nanometre, nanometers, corresponding to frequency, ...
, and potentially confirmation by genetic testing
Genetic testing, also known as DNA testing, is used to identify changes in DNA sequence or chromosome structure. Genetic testing can also include measuring the results of genetic changes, such as RNA analysis as an output of gene expression, or ...
.
Treacher Collins syndrome is not curable. Symptoms may be managed with reconstructive surgery, hearing aids, speech therapy
Speech is a human vocal communication using language. Each language uses phonetic combinations of vowel and consonant sounds that form the sound of its words (that is, all English words sound different from all French words, even if they are th ...
, and other assistive devices.[ Life expectancy is generally normal.][ TCS occurs in about one in 50,000 people.] The syndrome is named after Edward Treacher Collins
Edward Treacher Collins (28 May 1862 – 13 December 1932) was a British surgeon and ophthalmologist. He is best known for describing the Treacher Collins syndrome.
Biography
He was the son of Dr. William Job Collins and Miss Treacher. Treache ...
, an English
English usually refers to:
* English language
* English people
English may also refer to:
Peoples, culture, and language
* ''English'', an adjective for something of, from, or related to England
** English national ide ...
surgeon
In modern medicine, a surgeon is a medical professional who performs surgery. Although there are different traditions in different times and places, a modern surgeon usually is also a licensed physician or received the same medical training as ...
and ophthalmologist
Ophthalmology ( ) is a surgery, surgical subspecialty within medicine that deals with the diagnosis and treatment of eye disorders.
An ophthalmologist is a physician who undergoes subspecialty training in medical and surgical eye care. Followin ...
, who described its essential traits in 1900.
Signs and symptoms
Symptoms in people with Treacher Collins syndrome vary. Some individuals are so mildly affected that they remain undiagnosed, while others have moderate to severe facial involvement and life-threatening airway compromise. Most of the features of TCS are symmetrical and are already recognizable at birth.
The most common symptom of Treacher Collins syndrome is underdevelopment of the lower jaw and underdevelopment of the zygomatic bone
In the human skull, the zygomatic bone (from grc, ζῠγόν, zugón, yoke), also called cheekbone or malar bone, is a paired irregular bone which articulates with the maxilla, the temporal bone, the sphenoid bone and the frontal bone. It is si ...
. This can be accompanied by the tongue being retracted. The small mandible can result in a poor occlusion of the teeth or in more severe cases, trouble breathing or swallowing. The respiratory system of a child with Treacher Collins syndrome is the primary concern at birth, with other issues only addressed once respiratory function has been stabilized. Underdevelopment of the zygomatic bone gives the cheeks a sunken appearance.
The external ear
The outer ear, external ear, or auris externa is the external part of the ear, which consists of the auricle (also pinna) and the ear canal. It gathers sound energy and focuses it on the eardrum (tympanic membrane).
Structure
Auricle
Th ...
is sometimes small
Small may refer to:
Science and technology
* SMALL, an ALGOL-like programming language
* Small (anatomy), the lumbar region of the back
* ''Small'' (journal), a nano-science publication
* <small>, an HTML element that defines smaller text ...
, rotated, malformed, or absent entirely in people with TCS. Symmetric, bilateral narrowing or absence of the external ear canal, is also described. In most cases, the bones of the middle ear and the middle ear cavity are misshapen. Inner ear malformations are rarely described. As a result of these abnormalities, a majority of the individuals with TCS have conductive hearing loss
Conductive hearing loss (CHL) occurs when there is a problem transferring sound waves anywhere along the pathway through the outer ear, tympanic membrane (eardrum), or middle ear ( ossicles). If a conductive hearing loss occurs in conjunction wi ...
.
Most affected people also experience eye problems, including coloboma
A coloboma (from the Greek , meaning defect) is a hole in one of the structures of the eye, such as the iris, retina, choroid, or optic disc. The hole is present from birth and can be caused when a gap called the choroid fissure, which is pres ...
(notches) in the lower eyelids, partial or complete absence of eyelashes on the lower lid, downward angled eyelids, drooping of upper and lower eyelids, and narrowing of the tear ducts. Vision loss can occur and is associated with strabismus
Strabismus is a vision disorder in which the eyes do not properly align with each other when looking at an object. The eye that is focused on an object can alternate. The condition may be present occasionally or constantly. If present during a ...
, refractive error
Refractive error, also known as refraction error, is a problem with focus (optics), focusing light accurately on the retina due to the shape of the human eye, eye and or cornea. The most common types of refractive error are myopia, near-sightedne ...
s, and anisometropia
Anisometropia refers to a condition when two eyes have unequal refractive power. Generally, a difference in power of one diopter (1D) or more is the accepted threshold to label the condition anisometropia. Patients can tolerate 3 D of anisometro ...
. It can also be caused by severely dry eyes
Dry eye syndrome (DES), also known as keratoconjunctivitis sicca (KCS), is the condition of having dry eyes. Other associated symptoms include irritation, redness, discharge, and easily fatigued eyes. Blurred vision may also occur. Symptoms range ...
, a consequence of lower eyelid abnormalities and frequent eye infections.
Although an abnormally shaped skull is not distinctive for Treacher Collins syndrome, brachycephaly
Brachycephaly (derived from the Ancient Greek '' βραχύς'', 'short' and '' κεφαλή'', 'head') is the shape of a skull shorter than typical for its species. It is perceived as a desirable trait in some domesticated dog and cat breeds, ...
with bitemporal narrowing is sometimes observed. Cleft palate
A cleft lip contains an opening in the upper lip that may extend into the nose. The opening may be on one side, both sides, or in the middle. A cleft palate occurs when the palate (the roof of the mouth) contains an opening into the nose. The te ...
is also common.
Dental anomalies are seen in 60% of affected people, including tooth agenesis (33%), discoloration (enamel opacities) (20%), malplacement of the maxillary first molars (13%), and wide spacing of the teeth. In some cases, dental anomalies in combination with mandible hypoplasia result in a malocclusion
In orthodontics, a malocclusion is a misalignment or incorrect relation between the teeth of the upper and lower dental arches when they approach each other as the jaws close. The English-language term dates from 1864; Edward Angle (1855-1930), ...
. This can lead to problems with food intake and the ability to close the mouth.
Less common features of TCS may add to an affected person's breathing problems, including sleep apnea. Choanal atresia
Choanal atresia is a congenital disorder where the back of the nasal passage (choana) is blocked, usually by abnormal bony or soft tissue (membranous) due to failed hole development of the nasal fossae during prenatal development. It causes persi ...
or stenosis is a narrowing or absence of the choanae
The choanae (singular choana), posterior nasal apertures or internal nostrils are two openings found at the back of the nasal passage between the nasal cavity and the throat in tetrapods, including humans and other mammals (as well as crocodilia ...
, the internal opening of the nasal passages, which may also be observed. Underdevelopment of the pharynx
The pharynx (plural: pharynges) is the part of the throat behind the mouth and nasal cavity, and above the oesophagus and trachea (the tubes going down to the stomach and the lungs). It is found in vertebrates and invertebrates, though its struc ...
can also narrow the airway.
Features related to TCS that are seen less frequently include nasal deformities, high-arched palate, macrostomia, preauricular hair displacement, cleft palate
A cleft lip contains an opening in the upper lip that may extend into the nose. The opening may be on one side, both sides, or in the middle. A cleft palate occurs when the palate (the roof of the mouth) contains an opening into the nose. The te ...
, hypertelorism
Hypertelorism is an abnormally increased distance between two organs or bodily parts, usually referring to an increased distance between the orbits (eyes), or orbital hypertelorism. In this condition the distance between the inner eye corners as ...
, notched upper eyelid, and congenital heart defect
A congenital heart defect (CHD), also known as a congenital heart anomaly and congenital heart disease, is a defect in the structure of the heart or great vessels that is present at birth. A congenital heart defect is classed as a cardiovascular ...
s.
Although facial deformity is often associated with developmental delay and intellectual disability, more than 95% of people affected with TCS have normal intelligence. The psychological and social problems associated with facial deformity can affect quality of life in individuals with TCS.
Genetics
Mutations in ''TCOF1
Treacle protein is a protein that in humans is encoded by the ''TCOF1'' gene.
This gene encodes a nucleolar protein with an LIS1 homology domain. The protein is involved in ribosomal DNA gene transcription through its interaction with upstream b ...
'', ''POLR1C
DNA-directed RNA polymerases I and III subunit RPAC1 is a protein that in humans is encoded by the ''POLR1C'' gene.
Interactions
POLR1C has been shown to interact with CD3EAP, POLR1E and POLR1D
DNA-directed RNA polymerases I and III subunit ...
'', or ''POLR1D
DNA-directed RNA polymerases I and III subunit RPAC2 is a protein that in humans is encoded by the ''POLR1D'' gene.
Interactions
POLR1D has been shown to Protein-protein_interaction, interact with POLR1C.
References
Further reading
...
'' genes can cause Treacher Collins syndrome. ''TCOF1'' gene mutations are the most common cause of the disorder, with ''POLR1C'' and ''POLR1D'' gene mutations causing an additional 2% of cases. In individuals without an identified mutation in one of these genes, the genetic cause of the condition is unknown. The ''TCOF1'', ''POLR1C'', and ''POLR1D'' genes code for proteins which play important roles in the early development of bones and other tissues of the face. Mutations in these genes reduce the production of rRNA, which may trigger the self-destruction (apoptosis) of certain cells involved in the development of facial bones and tissues. It is unclear why the effects of a reduction in rRNA are limited to facial development. Mutations in ''TCOF1'' and ''POLR1D'' cause the autosomal dominant form of Treacher Collins, and mutations in ''POLR1C'' cause the autosomal recessive form.
''TCOF1''
''TCOF1'' is the primary gene associated with TCS, a mutation in this gene being found in 90–95% of the individuals with TCS.[Katsanis SH, et al., ''Treacher Collins syndrome'', 2004, GeneReviews] However, in some individuals with typical symptoms of TCS, mutations in ''TCOF1'' have not been found. Investigation of the DNA has resulted in the identification of the kind of mutations found in ''TCOF1''. The majority of mutations are small deletions or insertions, though splice site
RNA splicing is a process in molecular biology where a newly-made precursor messenger RNA (pre-mRNA) transcript is transformed into a mature messenger RNA (mRNA). It works by removing all the introns (non-coding regions of RNA) and ''splicing'' ba ...
and missense mutations
In genetics, a missense mutation is a point mutation in which a single nucleotide change results in a codon that codes for a different amino acid. It is a type of nonsynonymous substitution.
Substitution of protein from DNA mutations
Missense mu ...
also have been identified.
Mutation analysis has unveiled more than 100 disease-causing mutations in ''TCOF1'', which are mostly family-specific mutations. The only recurrent mutation accounts for about 17% of the cases.
''TCOF1'' is found on the 5th chromosome in the 5q32 region. It codes for a relatively simple nucleolar
The nucleolus (, plural: nucleoli ) is the largest structure in the nucleus of eukaryotic cells. It is best known as the site of ribosome biogenesis, which is the synthesis of ribosomes. The nucleolus also participates in the formation of sign ...
protein called treacle
Treacle () is any uncrystallised syrup made during the refining of sugar.Oxford Dictionary The most common forms of treacle are golden syrup, a pale variety, and a darker variety known as black treacle, similar to molasses. Black treacle has a ...
, that is thought to be involved in ribosome assembly. Mutations in ''TCOF1'' lead to haploinsufficiency
Haploinsufficiency in genetics describes a model of dominant gene action in diploid organisms, in which a single copy of the wild-type allele at a locus in heterozygous combination with a variant allele is insufficient to produce the wild-type ...
of the treacle protein. Haploinsufficiency occurs when a diploid organism has only one functional copy of a gene, because the other copy is inactivated by a mutation. The one normal copy of the gene does not produce enough protein, causing disease. Haploinsufficiency of the treacle protein leads to a depletion of the neural crest cell
Neural crest cells are a temporary group of cells unique to vertebrates that arise from the embryonic ectoderm germ layer, and in turn give rise to a diverse cell lineage—including melanocytes, craniofacial cartilage and bone, smooth muscle, per ...
precursor, which leads to a reduced number of crest cells migrating to the first and second pharyngeal arch
The pharyngeal arches, also known as visceral arches'','' are structures seen in the embryonic development of vertebrates that are recognisable precursors for many structures. In fish, the arches are known as the branchial arches, or gill arch ...
es. These cells play an important role in the development of the craniofacial appearance, and loss of one copy of treacle affects the cells' ability to form the bones and tissues of the face.
Other mutations
''POLR1C'' and ''POLR1D'' mutations are responsible for a minority of cases of Treacher Collins. ''POLR1C'' is found on chromosome 6 at position 6q21.2 and ''POLR1D'' is found on chromosome 13 at position 13q12.2. Those genes code for a protein subunits shared between RNA polymerase I and III. Both of these polymerases are important for ribosome biogenesis.
Diagnosis
Genetic counseling
TCS is inherited in an autosomal dominant
In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the effect of a different variant of the same gene on the other copy of the chromosome. The first variant is termed dominant and t ...
manner and the penetrance of the affected gene is almost complete. Some recent investigations, though, described some rare cases in which the penetrance
Penetrance in genetics is the proportion of individuals carrying a particular variant (or allele) of a gene (the genotype) that also express an associated trait (the phenotype). In medical genetics, the penetrance of a disease-causing mutation is t ...
in TCS was not complete. Causes may be a variable expressivity, an incomplete penetrance
Penetrance in genetics is the proportion of individuals carrying a particular variant (or allele) of a gene (the genotype) that also express an associated trait (the phenotype). In medical genetics, the penetrance of a disease-causing mutation is t ...
or germline mosaicism
Germline mosaicism, also called gonadal mosaicism, is a type of genetic mosaicism where more than one set of genetic information is found specifically within the gamete cells; conversely, somatic mosaicism is a type of genetic mosaicism found in s ...
. Only 40% of the mutations are inherited. The remaining 60% are a result of a ''de novo'' mutation, where a child has a new mutation in the responsible gene and did not inherit it from either parent. In the outcome of the disease, inter- and intrafamilial variability occurs. This suggests that when an affected child is born, it is important to investigate the parents to determine whether the affected gene is present, because the parent could have a mild form of the disease that has not been diagnosed. 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 increases.
Prenatal diagnosis
Mutations in the main genes responsible for TCS can be detected with chorionic villus sampling
Chorionic villus sampling (CVS), sometimes called "chorionic ''villous'' sampling" (as "villous" is the adjectival form of the word "villus"), is a form of prenatal diagnosis done to determine chromosomal or genetic disorders in the fetus. It ent ...
or amniocentesis
Amniocentesis is a medical procedure used primarily in the prenatal diagnosis of genetic conditions. It has other uses such as in the assessment of infection and fetal lung maturity. Prenatal diagnostic testing, which includes amniocentesis, is ne ...
. Rare mutations may not be detected by these methods. Ultrasonography can be used to detect craniofacial abnormalities later in pregnancy, but may not detect milder cases.
Clinical findings
TCS is often first suspected with characteristic symptoms observed during a physical exam. However, the clinical presentation of TCS can resemble other diseases, making diagnosis difficult. The OMENS classification was developed as a comprehensive and stage-based approach to differentiate the diseases. This acronym describes five distinct dysmorphic manifestations, namely orbital asymmetry, mandibular hypoplasia, auricular deformity, nerve development, and soft-tissue disease.
Orbital symmetry
* 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 fossa
The glenoid fossa of the scapula or the glenoid cavity is a bone part of the shoulder. The word ''glenoid'' is pronounced or (both are common) and is from el, gléne, "socket", reflecting the shoulder joint's ball-and-socket form. It is a sha ...
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 canal with variable hypoplasia of the auricle
* E3: Malposition of the lobule with absent auricle, lobular remnant usually inferior anteriorly displaced
Facial nerve
* N0: No facial nerve
The facial nerve, also known as the seventh cranial nerve, cranial nerve VII, or simply CN VII, is a cranial nerve that emerges from the pons of the brainstem, controls the muscles of facial expression, and functions in the conveyance of tas ...
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
Radiographs
A few techniques are used to confirm the diagnosis in TCS.
An orthopantomogram
A panoramic radiograph 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. Panoramic radiography is a form of focal plane tomography; thus, images of multiple pl ...
(OPG) is a panoramic dental X-ray
Dental radiographs, commonly known as X-rays, are radiographs used to diagnose hidden dental structures, malignant or benign masses, bone loss, and cavities.
A radiographic image is formed by a controlled burst of X-ray radiation which penetrat ...
of the upper and lower jaw. It shows a two-dimensional image from ear to ear. Particularly, OPG facilitates an accurate postoperative follow-up and monitoring of bone growth under a mono- or double-distractor treatment. Thereby, some TCS features could be seen on OPG, but better techniques are used to include the whole spectrum of TCS abnormalities instead of showing only the jaw abnormalities.
Another method of radiographic evaluation is taking an 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, occipitomental radiographs are used to detect hypoplasia or discontinuity of the zygomatic arch
In anatomy, the zygomatic arch, or cheek bone, is a part of the skull formed by the zygomatic process of the temporal bone (a bone extending forward from the side of the skull, over the opening of the ear) and the temporal process of the zygomati ...
.
CT scan
A temporal-bone CT using thin slices makes it possible to diagnose the degree of stenosis and atresia of the external auditory canal, the status of the middle ear cavity, the absent or dysplastic and rudimentary ossicles, or inner ear abnormalities such as a deficient cochlea. Two- and three-dimensional CT reconstructions with VRT and bone and skin-surfacing are helpful for more accurate staging and the three-dimensional planning of mandibular and external ear reconstructive surgery.
Differential diagnosis
Other diseases have similar characteristics to Treacher Collins syndrome. In the differential diagnosis
In healthcare, a differential diagnosis (abbreviated DDx) is a method of analysis of a patient's history and physical examination to arrive at the correct diagnosis. It involves distinguishing a particular disease or condition from others that p ...
, one should consider the acrofacial dysostoses. The facial appearance resembles that of Treacher Collins syndrome, but additional limb abnormalities occur in those persons. Examples of these diseases are Nager syndrome
Nager acrofacial dysostosis, also known as Nager syndrome, is a genetic disorder which displays several or all of the following characteristics: Micrognathism, underdevelopment of the cheek and jaw area, down-sloping of the opening of the human eye ...
and Miller syndrome
Miller syndrome, also known as Genée–Wiedemann syndrome, Wildervanck–Smith syndrome or postaxial acrofacial dystosis, is an extremely rare genetic condition that manifests as craniofacial, limb and eye deformities. It is caused by a mutation ...
.
The oculoauriculovertebral spectrum should also be considered in the differential diagnosis. An example is hemifacial microsomia
Hemifacial microsomia (HFM) 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 usually occurs on one side of the face, but both sides are sometimes affected. ...
, which primarily affects development of the ear, mouth, and mandible. This anomaly may occur bilaterally. Another disease which belongs to this spectrum is Goldenhar syndrome
Goldenhar syndrome is a rare congenital defect characterized by incomplete development of the ear, nose, soft palate, lip and mandible on usually one side of the body. Common clinical manifestations include limbal dermoids, preauricular skin tags ...
, which includes vertebral abnormalities, epibulbar dermoids and facial deformities.
Treatment
The treatment of individuals with TCS may involve the intervention of professionals from multiple disciplines. The primary concerns are breathing and feeding, as a consequence of the hypoplasia of the mandibula and the obstruction of the hypopharynx by the tongue. Sometimes, they may require a tracheostomy
Tracheotomy (, ), or tracheostomy, is a surgical airway management procedure which consists of making an incision (cut) on the anterior aspect (front) of the neck and opening a direct airway through an incision in the Vertebrate trachea, trache ...
to maintain an adequate airway, and a gastrostomy
Gastrostomy is the creation of an artificial external opening into the stomach for nutritional support or gastric decompression.
Typically this would include an incision in the patient's epigastrium as part of a formal operation. It can be perfor ...
to assure an adequate caloric intake while protecting the airway. Corrective surgery of the face is performed at defined ages, depending on the developmental state.
An overview of the present guidelines:
* If a cleft palate
A cleft lip contains an opening in the upper lip that may extend into the nose. The opening may be on one side, both sides, or in the middle. A cleft palate occurs when the palate (the roof of the mouth) contains an opening into the nose. The te ...
is present, the repair normally takes place at 9–12 months old. Before surgery, a polysomnography
Polysomnography (PSG), a type of sleep study, is a multi-parameter study of sleep and a diagnostic tool in sleep medicine. The test result is called a polysomnogram, also abbreviated PSG. The name is derived from Greek and Latin roots: the Gree ...
with a palatal plate in place is needed. This may predict the postoperative situation and gives insight on the chance of the presence of sleep apnea
Sleep apnea, also spelled sleep apnoea, is a sleep disorder in which pauses in breathing or periods of shallow breathing during sleep occur more often than normal. Each pause can last for a few seconds to a few minutes and they happen many times ...
(OSAS) after the operation.
* Hearing loss is treated by bone conduction amplification, speech therapy, and educational intervention to avoid language/speech problems. The bone-anchored hearing aid
A bone-anchored hearing aid (BAHA) is a type of hearing aid based on bone conduction. It is primarily suited for people who have conductive hearing losses, unilateral hearing loss, single-sided deafness and people with mixed hearing losses who ca ...
is an alternative for individuals with ear anomalies.
* 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. Reconstruction of the lower eyelid coloboma
A coloboma (from the Greek , meaning defect) is a hole in one of the structures of the eye, such as the iris, retina, choroid, or optic disc. The hole is present from birth and can be caused when a gap called the choroid fissure, which is pres ...
includes the use of a myocutaneous flap, which is elevated and in this manner closes the eyelid defect.
* External ear reconstruction is usually done when the individual is at least eight years old. Sometimes, the external auditory canal or middle ear can also be treated.
* The optimal age for the maxillomandibular reconstruction is controversial; as of 2004, this classification has been 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 no abnormalities occur. If abnormalities like dislocation or an overgrowth of teeth are seen, appropriate action can be undertaken as soon as possible.
* Orthognathic treatments usually take place after the age of 16 years; at this point, all teeth are in place and the jaw and dentition 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 genioplasty only restores the profile.
* If a nose reconstruction is necessary, it is usually performed after the orthognathic 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 TCS have not yielded positive results.
Auditory rehabilitation with bone-anchored hearing aid
A bone-anchored hearing aid (BAHA) is a type of hearing aid based on bone conduction. It is primarily suited for people who have conductive hearing losses, unilateral hearing loss, single-sided deafness and people with mixed hearing losses who ca ...
s (BAHAs) or a conventional bone conduction aid has proven preferable to surgical reconstruction.
Psychiatric
The disorder can be associated with a number of psychological symptoms, including anxiety, depression, social phobia, and distress about body image. People who have this disorder may also experience discrimination, bullying, and name calling, especially when young. A multi-disciplinary team and parental support should include these issues.
Epidemiology
TCS occurs in about one in 50,000 births in Europe. Worldwide, it is estimated to occur in one in 10,000 to one in 50,000 births.
History
The syndrome is named after Edward Treacher Collins
Edward Treacher Collins (28 May 1862 – 13 December 1932) was a British surgeon and ophthalmologist. He is best known for describing the Treacher Collins syndrome.
Biography
He was the son of Dr. William Job Collins and Miss Treacher. Treache ...
(1862–1932), the English
English usually refers to:
* English language
* English people
English may also refer to:
Peoples, culture, and language
* ''English'', an adjective for something of, from, or related to England
** English national ide ...
surgeon
In modern medicine, a surgeon is a medical professional who performs surgery. Although there are different traditions in different times and places, a modern surgeon usually is also a licensed physician or received the same medical training as ...
and ophthalmologist
Ophthalmology ( ) is a surgery, surgical subspecialty within medicine that deals with the diagnosis and treatment of eye disorders.
An ophthalmologist is a physician who undergoes subspecialty training in medical and surgical eye care. Followin ...
who described its essential traits in 1900. In 1949, Adolphe Franceschetti and David Klein described the same condition on their own observations as ''mandibulofacial dysostosis''. The term mandibulofacial dysostosis is used to describe the clinical features.
Culture
A July 1977 ''New York Times
''The New York Times'' (''the Times'', ''NYT'', or the Gray Lady) is a daily newspaper based in New York City with a worldwide readership reported in 2020 to comprise a declining 840,000 paid print subscribers, and a growing 6 million paid d ...
'' article that was reprinted in numerous newspapers nationwide over the ensuing weeks brought this malady to many people's attention for the first time.
Prior to beginning his comedy career, Bob Saget
Robert Lane Saget (May 17, 1956 – January 9, 2022) was an American stand-up comedian, actor, and television host. Saget played Danny Tanner on the ABC sitcom ''Full House'' (1987-1995), and reprised the role for its Netflix sequel '' Fuller ...
made a documentary short called "Through Adam's Eyes" documenting his young nephew's experiences undergoing facial reconstructive surgery due to Treacher Collins; the film won a student Academy Award
The Academy Awards, better known as the Oscars, are awards for artistic and technical merit for the American and international film industry. The awards are regarded by many as the most prestigious, significant awards in the entertainment ind ...
.
The disorder was featured on the show ''Nip/Tuck
''Nip/Tuck'' is an American medical drama television series created by Ryan Murphy that aired on FX in the United States from July 22, 2003, to March 3, 2010. The series, which also incorporates elements of crime drama, black comedy, family dra ...
'', in the episode " Blu Mondae". TLC
TLC may refer to:
Arts and entertainment Television
* ''TLC'' (TV series), a 2002 British situational comedy television series that aired on BBC2
* TLC (TV network), formerly the Learning Channel, an American cable TV network
** TLC (Asia), an A ...
's ''Born Without a Face'' features Juliana Wetmore, who was born with the most severe case in medical history of this syndrome and is missing 30%–40% of the bones in her face.
In 2010, BBC Three
BBC Three is a British free-to-air public broadcast television channel owned and operated by the BBC. It was first launched on 9 February 2003 with programmes targeting 16 to 34-year-olds, covering all genres including animation, comedy, curre ...
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
BBC One is a British free-to-air public broadcast television network owned and operated by the BBC. It is the corporation's flagship network and is known for broadcasting mainstream programming, which includes BBC News television bulletins, p ...
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 is a process whereby a person assumes the parenting of another, usually a child, from that person's biological or legal parent or parents. Legal adoptions permanently transfer all rights and responsibilities, along with filiation, from ...
, aired in 2011.[.]
In ''Wonder
Wonder most commonly refers to:
* Wonder (emotion), an emotion comparable to surprise that people feel when perceiving something rare or unexpected
Wonder may also refer to:
Arts and media
Fictional entities
* The Wonders, a fictional band ...
'', a children's novel
Children's literature or juvenile literature includes stories, books, magazines, and poems that are created for children. Modern children's literature is classified in two different ways: genre or the intended age of the reader.
Children's ...
, the main character is a child who has Treacher Collins syndrome. A 2017 film adaptation of ''Wonder'', starring Julia Roberts
Julia Fiona Roberts (born October 28, 1967) is an American actress. Known for her leading roles in films encompassing a variety of genres, she has received multiple accolades, including an Academy Award, a British Academy Film Award, and thr ...
, Owen Wilson
Owen Cunningham Wilson (born November 18, 1968) is an American actor. He has had a long association with filmmaker Wes Anderson with whom he shared writing and acting credits for '' Bottle Rocket'' (1996), '' Rushmore'' (1998), and ''The Royal ...
and Jacob Tremblay
Jacob Tremblay ( ; born October 5, 2006) is a Canadian actor. He is the recipient of various accolades, including a Canadian Screen Award, a Critics' Choice Movie Award, a Young Artist Award, and nominations for a Screen Actors Guild Award, tw ...
, was released in November 2017.
Alison Midstokke
Alison Midstokke is an American actress and activist.Samantha Barna"Different is Beautiful: an Interview with Alison Midstokke" ''Inspiring Lives'', May 31, 2018. She is most noted for her performance in the 2018 film '' Happy Face'', for which s ...
, who appears in the drama film '' Happy Face'' (2018), is an actress and activist who has the condition.
See also
* First arch syndrome
First arch syndromes are congenital defects caused by a failure of neural crest cells to migrate into the first pharyngeal arch
The pharyngeal arches, also known as visceral arches'','' are structures seen in the embryonic development of verte ...
* Franceschetti-Klein syndrome
* Hearing loss with craniofacial syndromes Hearing loss with craniofacial syndromes is a common occurrence. Many of these multianomaly disorders involve structural malformations of the outer or middle ear, making a significant hearing loss highly likely.
Treacher Collins syndrome
Individ ...
References
External links
{{DEFAULTSORT:Treacher Collins Syndrome
Genodermatoses
Rare diseases
Hearing loss with craniofacial syndromes
Congenital disorders of musculoskeletal system
Autosomal dominant disorders
Nucleus diseases
Connective tissue diseases
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