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Treacher Collins syndrome: characteristics, diagnosis and treatment

Treacher Collins syndrome: characteristics, diagnosis and treatment

June 15, 2024

If there is a characteristic shared by a large number of rare diseases, it is to have a basic genetic component. We speak of genomic alterations that occur randomly, or to which the cause has not yet been found.

Treacher Collins syndrome is one of these diseases, and is associated with a very characteristic facial appearance . In this article we will look at its characteristics, associated problems and treatment options.

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What is Treacher Collins syndrome?

Treacher Collins syndrome is a genetic-based condition that affects the craniofacial development of the fetus. This alteration of the development is characterized by causing symmetric otomandibular dysplasia on both sides of the face and which is related to various anomalies in the skull and neck.

Dysplasia refers to an abnormality in the appearance of the cells caused by an adulteration originated during the process of maturation of these. This cellular anomaly is irreversible and externalized by alterations in the development of a tissue, an organ or any anatomical portion of the organism.

In cases of patients with Treacher Collins syndrome this dysplasia affects the development of the cheekbones, ears and jaw . Also, other indicators that are so visible are a reduced pharynx or alterations in the formation of the palate.

It is considered that the Treacher Collins appears in one of every 10,000 embryos . The children of parents of affected persons have a 50% probability of suffering from this syndrome, and the severity of this may vary unpredictably. On the other hand, in 55% of Treacher Collins cases the genetic alteration arises spontaneously, without having established the causes clearly.

This syndrome receives its name in honor of the surgeon and ophthalmologist of English origin, Edward Treacher Collins, who discovered a series of patterns or symptoms in common between different affected and described them in the year 1900. Several decades later, in the year 1949 , A. Franceschetti and D. Klein detailed these same peculiarities of the syndrome and they gave it the name of mandibulofacial dysostosis .

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Symptoms and physical characteristics

There are a number of physical characteristics, both visible and internal, as well as alterations in some very distinctive perception processes of Treacher Collins syndrome.

As for alterations in craniofacial development we find the following characteristics:

  • Lack of cheekbones due to hypoplasia of the zygomatic bones.
  • Obstruction of the respiratory tract .
  • Alterations in the outer ear.
  • Eyelid eyelids.
  • Lack of eyelashes
  • Alterations in the palate : crack, fissure or crack.
  • Transmission deafness caused by an alteration in the chain of ossicles.

As for the physical features on the face , people with Treacher Collins present:

  • Eyes tilted down .
  • Fissures in the lower eyelid.
  • Squint (Not in all cases).
  • Wide mouth.
  • Prominent nose .
  • Chin often.
  • Malformations in the ears.

Associated problems

Children affected by Treacher Collins syndrome are susceptible to a number of problems related to breathing, hearing, sight and hands. Although these problems do not always appear, they can be quite disabling, with respiratory problems being the most harmful to the child's health.

Respiratory problems

The underdevelopment of the jaws forces the tongue to be placed in a more posterior position, very close to the throat ; resulting in a narrower airway than usual.

Therefore, parents should pay special attention when children develop some type of infection or cold can inflame or congest the airways.

Hearing problems

Due to the alterations in the formation of the inner ear, it is absolutely necessary to perform an assessment of the child's hearing ability as soon as possible .

In most cases, patients have a deafness of up to 40%, so there is a need for a device that facilitates listening.

Visual problems

Visual problems are one of the most distinctive features of Treacher-Collins syndrome. The presence of drooping lower eyelids can cause a very recurrent dryness of the eyes.

Problems in the hands

The problems in the hands are that they have less incidence in these people. However, some patients are born with alterations in the thumbs , being able to be considerably small or even being born without them.

However, in cases in which the baby is born without both thumbs, an evaluation and exhaustive diagnosis must be made, since it could be Nager's Syndrome, which presents a symptomatology very similar to the Treacher Collins.


Thanks to advances in genetic scientists, recently has been discovered in the specific gene that leads to Treacher Collins syndrome .

The gene in question is TCOF1, also known as Treacle. This gene acts on the reproduction of gener of ribosomal DNA , remaining active throughout the development of the embryo. Specifically in those areas destined to become the bones and facial tissues.


The diagnosis of Treacher Collins syndrome is based on the evaluation of the aforementioned clinical picture, as well as on complementary examinations and molecular analyzes that certify the diagnosis. These molecular analytics can be carried out during the prenatal period , collecting samples of chorionic villi (CVS).

Also, the ultrasound performed at this stage can reveal both the facial dysmorphism and the alterations in the ear so characteristic of this syndrome.

Treatment and prognosis

Treatment of Treacher Collins syndrome It must be carried out by a group of craniofacial specialists who work in constant synergy, coordinating with each other.

The teams of craniofacial specialists They are particularly qualified for the treatment and surgical practice of alterations related to the face and skull. Within these teams are:

  • Anthropologist specialized in cranioencephalic measurements.
  • Craniofacial surgeon.
  • Geneticist.
  • Neuro-ophthalmologist.
  • Neuro-radiologist.
  • Pediatrician anesthesiologist.
  • Pediatric dentist
  • Pediatric intensive care
  • Pediatric neurosurgeon.
  • Pediatric nurse.
  • Pediatric otolaryngologist.
  • Child-juvenile psychologist.
  • Social worker.
  • Speech therapist

Regarding prognosis, generally, children with Treacher Collins syndrome mature correctly becoming adults of normal intelligence without any need for attention or dependence. However, they may need the help of psychotherapy to deal with issues related to self-esteem problems and possible problems of social inclusion.

Mandibulofacial Dysostosis (Treacher Collins Syndrome) : Symptoms, Diagnosis, Treatment, Prevention (June 2024).

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