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Treacher Collins Syndrome Pictures

What is Treacher Collins Syndrome

Treacher-Collins syndrome is an autosomal dominant congenital condition characterized by abnormalities of the face and head. It is a rare disorder and tends to be passed down in families.

Treacher Collins Syndrome Symptoms

The severity of the symptoms of Treacher-Collins syndrome varies from one individual to another. Some of the symptoms are as follows:

A small and malformed jaw with a large mouth.
Cleft Palate
Vision problems and eye deformities like lid lashes aplasia, lower eyelids coloboma, short and downward slanting palpebral fissures, and thin or absent eyelashes. Vision loss may occur due to abnormalities like refractive errors, etc.
Dental abnormalities like deformities of the tooth enamel, tooth agenesis, improper placement of some teeth and in rare cases malocclusion may develop leading to feeding problems and difficulties in closing the mouth. In addition, this may also cause speaking and communication problems.
Restrictive or constricted airway leading to breathing problems that can be life threatening.
Anomalies of the ears, such as low-set, rotated, small ears or the absence of ears, which may lead to conductive loss of hearing.
An abnormal shape to the skull that may include bitemporal narrowing.

Other symptoms that are rare include:

Upper eyelid coloboma
Deformity of the nose
Hypertelorism of the eyes
A highly arched palate
Choanal atresia
Scalp hair that may grow till the cheeks or preauricular displacement of hair
Macrostomia

Treacher-Collins Syndrome Causes

Treacher-Collins syndrome is caused due to the mutation of TCOF1 gene.
Treacher-Collins syndrome has an autosomal-dominant pattern and hence can be inherited by the children from their parents.

Treatment for Treacher-Collins syndrome

Treatment for Treacher-Collins syndrome includes treating the symptoms which is as follows:

Infants may require a tracheostomy in severe cases of the disorder.
Tube feeding for individuals with feeding problems
Hearing aids to counteract the loss of hearing and to aid the development of communication skills in children with Treacher-Collins syndrome.
Psychological therapy and family support to cope with the social and emotional well being of the individuals with facial deformities.
Surgical intervention to correct the deformities like cleft palate, eye defects, etc without causing grievous injury to the individual.
Dental reconstruction.