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| Treacher Collins Syndrome
The syndrome was named after an ophthalmologist called Edward Treacher
Collins in 1900. It can also be known by other names such as Berry-Treacher
Collins Syndrome, Franceschetti-Klein Syndrome, Franceschetti-Zwahlen
Syndrome and Thomson complex. It is a condition that causes facial
malformations and severe hearing loss.
Physical characteristicsSomeone with Treacher Collins Syndrome may have malformed cheekbones,
chin, nose, jaw and temples. Eyelids are often drooping, seeming not to support
the eyes, and there may be a small nick in the lower lid. The ears may be
malformed or completely absent. Hairline and palate may also be unusual.
Depressed cheekbones 
The cheekbones can be underdeveloped or absent. This means that the cheek muscles join onto the lower jaw muscles and so cause sloping eyes. This can
be corrected by surgery using implants and bone grafts.
Malformed or absent ears 
This will vary greatly from case to case. Some may just have small ears; others
may have no ears at all. The outer ear may be folded or squashed. The middle
ear can also be malformed or missing. Any hearing loss is almost always
conductive and can vary from partial to severe.
Corrective surgery will depend on the individual and on which parts of the ear
are missing. Artificial ears can be attached using Titanium, a metal that uniquely
bonds with bone. Hearing may be improved with hearing aids. Most often a
bone conduction hearing aid is used, attached to a headband, or a Bone
Anchored Hearing Aid attached directly to the mastoid bone.
Receded chin
The Treacher Collins baby is often born with a much receded lower jaw. This
can improve as the child grows.
Hair growth
This again is quite common at birth. The hairline continues across the cheek
forming a definite sideburn towards the mouth. This may only be temporary and
varies from child to child.
Other possible problemsBreathing problems can occur. In small children and babies breathing can be
very noisy. When colds or infections occur the usual problems are sometimes
more severe. This is because the roof of the mouth may be high and the nasal
passages very small. Snoring is a common problem and may be loud. Eye
infections are common in children.
 Dental problems may occur because of the smallness of the mouth. A receded
jaw could cause overcrowded teeth or an incorrect bite. All this can be improved
by orthodontic treatment. Cleft palate or choanal atresia conditions may be
present in severe cases.
Is it inherited?
Yes - but you must have the syndrome to pass it on. For those that have the
Syndrome there is a 50-50 chance of having children affected by it. The severity
of a parent’s condition is not an indication of the possible severity of the child.
This means that a severely affected parent may have a mildly affected child,
and vice-versa.
Each case will be different and must be assessed individually. The
psychological effects of Treacher Collins Syndrome are significant due to facial
malformations. It is important to have correct consultation on everything
involved.
Over half of Treacher Collins Syndrome cases are a result of fresh genetic
mutation, not direct inheritance from parents. These children in turn will have a
50-50 chance of passing it on.
The future 
It is important to remember that Treacher Collins Syndrome is not progressive. Children do not get worse. In fact many features can be
improved by growth and by surgery and other treatment.
Because it can be inherited people with Treacher Collins Syndrome should
seek guidance from a qualified genetic counsellor if considering having
children.
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