Treacher Collins syndrome

Treacher-Collins SyndromeTreacher Collinsfacial deformityFamilial Treacher–Collins syndromeFranceschetti-Zwahlen-Klein syndromeFranceschetti–Zwahlen–KleinFranceschetti–Zwahlen–Klein syndromeTreacher Collins syndrome (TCS)Treacher-CollinsTreacher–Collins syndrome
Treacher Collins syndrome (TCS) is a genetic disorder characterized by deformities of the ears, eyes, cheekbones, and chin.wikipedia
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Hearing loss

deafdeafnesshearing impairment
Complications may include breathing problems, problems seeing, cleft palate, and hearing loss.

Edward Treacher Collins

The syndrome is named after Edward Treacher Collins, an English surgeon and ophthalmologist, who described its essential traits in 1900.
He is best known for describing the Treacher Collins syndrome.

Conductive hearing loss

conductivehearing loss, conductiveconductive hearing losses
As a result of these abnormalities, a majority of the individuals with TCS have conductive hearing loss.

Cleft lip and cleft palate

cleft palatecleft lipcleft lip and palate
Complications may include breathing problems, problems seeing, cleft palate, and hearing loss.

Treacle protein

TCOF1treacleTreacher Collins-Franceschetti syndrome 1
The involved genes may include TCOF1, POLR1C, or POLR1D.
Mutations in this gene have been associated with Treacher Collins syndrome, a disorder which includes abnormal craniofacial development.

Coloboma

colobomasColoboma, ocularcolobomata
Most affected people also experience eye problems, including colobomata (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.

Choanal atresia

atresia of the nasal choanaenasal
Choanal atresia or stenosis is a narrowing or absence of the choanae, the internal opening of the nasal passages, which may also be observed.
Examples include the craniosynostosis syndromes such as Crouzon syndrome, Pfeiffer syndrome, Treacher Collins and Antley-Bixler syndrome.

Micrognathism

micrognathiaagnathiaSmall jaw size
The most common symptom of Treacher Collins syndrome is underdevelopment of the lower jaw and underdevelopment of the zygomatic bone.

Zygomatic bone

cheekbonezygomaticcheek bone
The most common symptom of Treacher Collins syndrome is underdevelopment of the lower jaw and underdevelopment of the zygomatic bone.

Microtia

atresiaAural atresiaears that appear to be crumpled
The external ear is sometimes small, rotated, malformed, or absent entirely in people with TCS.
Microtia is usually isolated, but may occur in conjunction with hemifacial microsomia, Goldenhar Syndrome or Treacher-Collins Syndrome.

Hemifacial microsomia

craniofacial microsomiaFirst and second branchial arch syndromeMoeschler–Clarren syndrome
An example is hemifacial microsomia, which primarily affects development of the ear, mouth, and mandible.
HFM shares many similarities with Treacher Collins syndrome.

Jacob Tremblay

A 2017 film adaptation, starring Julia Roberts, Owen Wilson and Jacob Tremblay, was released in November 2017.
In 2017, he starred as August Pullman, a child with Treacher Collins syndrome, in the drama Wonder, and in 2019 he headlined the R-rated comedy film Good Boys.

Wonder (film)

WonderWonder'' (film)2017 film adaptation
A 2017 film adaptation, starring Julia Roberts, Owen Wilson and Jacob Tremblay, was released in November 2017.
The film, which follows a boy with Treacher Collins syndrome trying to fit in, was released in the United States on November 17, 2017, by Lionsgate.

Chromosome 5

chromosome five5Chromosome 5 (human)
TCOF1 is found on the 5th chromosome in the 5q32 region.

Neural crest

neural crest cellsneural crest cellcrest
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.
Treacher Collins Syndrome (TCS) results from the compromised development of the first and second pharyngeal arches during the early embryonic stage, which ultimately leads to mid and lower face abnormalities.

Wonder (Palacio novel)

Wondernovel of the same name2012 novel of the same name
In Wonder, the children's novel, the main character is a child who has Treacher Collins syndrome.
He has a medical condition, often equated with Treacher Collins syndrome, which has left his face disfigured.

Bone-anchored hearing aid

bone anchored hearing aidBAHABone Anchored Hearing Aid (BAHA)
Auditory rehabilitation with bone-anchored hearing aids (BAHAs) or a conventional bone conduction aid has proven preferable to surgical reconstruction.
Treacher Collins syndrome patients may have significant malformations with ossicular defects and an abnormal route of the facial nerve.

Nager acrofacial dysostosis

Nager syndromeAcrofacial dysostosis, Nager typeNager's Syndrome
Examples of these diseases are Nager syndrome and Miller syndrome.
Nager syndrome is shares many characteristics with five other craniofacial syndromes: Miller, Treacher Collins, Pierre Robin, Genee–Wiedemann and Franceschetti–Zwahlen–Klein.

Miller syndrome

Genée-Wiedemann syndromeGenee–WiedemannMiller
Examples of these diseases are Nager syndrome and Miller syndrome.
The differential diagnosis includes Treacher Collins syndrome, Nager acrofacial dysostosis (preaxial cranial dysostosis).

First arch syndrome

Examples of first arch syndromes include Treacher Collins syndrome and Pierre Robin syndrome.

Julia Roberts

Red Om FilmsJuliaDaniel "Danny" Moder
A 2017 film adaptation, starring Julia Roberts, Owen Wilson and Jacob Tremblay, was released in November 2017.
In Wonder (2017), the film adaptation of the 2012 novel of the same name by R. J. Palacio, Roberts played the mother of a boy with Treacher Collins syndrome.

Franceschetti–Klein syndrome

mandibulofacial dysostosisFranceschetti syndromeFranceschetti-Klein syndrome
It is sometimes equated with Treacher Collins syndrome.

Genetic disorder

genetic diseasegenetic disordersgenetic diseases
Treacher Collins syndrome (TCS) is a genetic disorder characterized by deformities of the ears, eyes, cheekbones, and chin.

Dominance (genetics)

autosomal recessiverecessiveautosomal dominant
TCS is usually autosomal dominant.

POLR1C

polymerase II
The involved genes may include TCOF1, POLR1C, or POLR1D.