Treacher Collins syndrome: characteristics, diagnosis and treatment.

This disease produces deformities in parts of the skull, generating some characteristic features.

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

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

What is Treacher Collins syndrome?

Treacher Collins syndrome is a genetically based condition that affects the craniofacial development of the fetus. This developmental disorder is characterized by symmetrical otomandibular dysplasia on both sides of the face and is associated with various skull and neck anomalies. on both sides of the face and which is related to various anomalies in the skull and neck.

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

In the cases of patients with Treacher Collins syndrome, this dysplasia affects the development of the cheekbones. 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.

Treacher Collins is considered to appear in one in 10,000 embryos.. Children of affected parents have a 50% probability of suffering from this syndrome, and the severity of the syndrome may vary unpredictably. On the other hand, in 55% of Treacher Collins cases the genetic alteration arises spontaneously, without the causes having been clearly established.

This syndrome is named after the English surgeon and ophthalmologist Edward Treacher Collins, who discovered a series of patterns or symptoms in common among different patients and described them in 1900. Several decades later, in 1949, A. Franceschetti and D. Klein detailed these same peculiarities of the syndrome and gave it the name of gave it the name of mandibulofacial dysostosis..

Symptoms and physical characteristics

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

As for the alterations in the 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 external ear.
• Sunken eyelids.
• Lack of eyelashes.
• Alterations in the palateCleft, fissure or crack.
• Transmission deafness caused by an alteration in the ossicles chain.

As for the physical features in the facethe persons with Treacher Collins present:

• Eyes slanted downward.
• Fissures in the lower eyelid.
• Strabismus (not in all the cases).
• Wide mouth.
• Prominent nose.
• Small chin.
• Malformations in the ears.

Associated problems

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

Respiratory problems

The underdevelopment of the jaws forces the tongue to be positioned more posteriorly, very close to the throat, resulting in a narrowed airway.resulting in a narrower airway than usual.

Therefore, parents should pay special attention when children develop any type of infection or cold that may inflame or congest the airway.

Hearing problems

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

In most cases, patients are up to 40% deaf, so there is a need for a hearing aid.

Visual problems

Visual problems are one of the most distinctive features of Treacher Collins syndrome. The presence of drooping lower eyelids can lead to recurrent dry eyes.

Hand problems

Problems in the hands are the least prevalent in these individuals. However, some patients are born with hand disorders, some patients are born with alterations in the thumbs, which can be considerably small or even very small.They may be considerably small or even born without them.

However, in cases in which the baby is born without both thumbs, a thorough evaluation and diagnosis should be performed, since it could be Nager syndrome, which presents symptoms very similar to Treacher Collins syndrome.

Causes

Thanks to scientific advances in genetics, recently a specific gene has been discovered that gives rise to Treacher Collins syndrome..

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

Diagnosis

The diagnosis of Treacher Collins syndrome is based on the evaluation of the clinical picture mentioned above, as well as on complementary explorations and molecular analyses that certify the diagnosis. These molecular tests can be carried out during the prenatal periodby collecting chorionic villus sampling (CVS).

Likewise, ultrasound scans performed at this stage can reveal both facial dysmorphism and ear alterations so characteristic of this syndrome.

Treatment and prognosis

The treatment of Treacher Collins syndrome syndrome must be carried out by a group of craniofacial specialists working in constant synergy, coordinating with each other.

Teams of craniofacial specialists are particularly qualified for the treatment and surgical practice of alterations related to the face and skull. These teams include

• Anthropologist specializing in cranioencephalic measurements.
• Craniofacial surgeon.
• Geneticist.
• Neuro-ophthalmologist.
• Neuro-radiologist.
• Pediatric anesthesiologist.
• Pediatric dentist.
• Pediatric intensivist.
• pediatric neurosurgeon
• Pediatric nurse.
• Pediatric otolaryngologist.
• Child and adolescent psychologist.
• social worker
• Speech therapist.

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