Treacher collins syndrome

This condition is passed on thru families — inherited. More than half of the cases are believed to be caused by new gene mutations since there is no family history of the disorder. Research that is recent has isolated the cause of this syndrome to a problem with a gene on the number 5 chromosome.

Treacher collins syndrome

General Discussion Summary Treacher Collins syndrome TCS is a rare genetic disorder characterized by distinctive abnormalities of the head and face.

What Is Treacher Collins Syndrome?

Craniofacial abnormalities tend to involve underdevelopment of the zygomatic complex, cheekbones, jaws, palate and oral cavity mouth which can lead to breathing respiratory and feeding difficulties. In addition, affected individuals may also have malformations of the eyes ocular including a downward slant of the opening between the upper and lower eyelids palpebral fissuresand anomalies of external and middle ear structures, which may result in hearing loss.

Brain and behavioral anomalies such as microcephaly and psychomotor delay have also been occasionally reported as part of the condition. The specific symptoms and physical characteristics associated with TCS can vary greatly from one individual to another.

Some individuals may be so mildly affected as to go undiagnosed, while others may develop serious, life-threatening complications. Introduction TCS is named after Edward Treacher Collins, a London ophthalmologist who first described the disorder in the medical literature in Some individuals may be so mildly affected that they can go undiagnosed; others may have significant abnormalities and the potential for life-threatening respiratory complications.

It is important to note that affected individuals will not have all of the symptoms discussed below. The major characteristic features of TCS encompass certain bones of the face, ears and soft tissues around the eyes. Affected individuals present with distinctive facial features and potentially develop hearing and vision problems.

Treacher collins syndrome

The abnormalities of TCS are typically symmetric almost identical on both sides of the face and are present at birth congenital. Speech and language development can be compromised by hearing loss, cleft palate or jaw and airway problems.

Treacher Collins Syndrome at Seattle Children’s

Intelligence is usually unaffected but brain and behavioral anomalies such as microcephaly and cognitive delay have been reported infrequently as part of the condition. Infants with TCS exhibit underdeveloped hypoplastic or absent cheekbones malarscausing this area of the face to appear flat or sunken.

The bone of the lower jaw mandible is incompletely developed mandibular hypoplasiacausing the chin and the lower jaw to appear abnormally small micrognathia.

Certain bony structures e. Affected infants may also exhibit underdevelopment of the throat pharyngeal hypoplasia. Children may experience obstructive sleep apnea which is characterized by repeated short interruptions of normal breathing and air movement during sleep.

In some severely-affected individuals, life-threatening respiratory difficulties may develop. Additional abnormalities that may contribute to respiratory or feeding difficulties include narrowing or obstruction of the nasal airways choanal stenosis or atresia.

What is Treacher Collins syndrome?

Additional dental abnormalities have also been reported including missing teeth tooth agenesisclouding or discoloration of the enamel of teeth enamel opacityand improper ectopic eruption of certain upper teeth maxillary molars Individuals with TCS may develop hearing loss due to the failure of sound waves to be conducted through the middle ear conductive hearing loss.Treacher Collins syndrome (TCS) is a rare condition.

Babies who have it are born with deformed ears, eyelids, cheek bones, and jawbones. There is no cure, but surgery can make a big difference.

Treacher collins syndrome

Treacher Collins syndrome is a craniofacial deformity, meaning that the bones and tissues of the face do not develop as they should. Severity of the condition varies from child to child, says Dr. Treacher Collins syndrome is a condition that is passed down through families (hereditary).

It leads to problems with the structure of the face. Treacher Collins syndrome is a rare, genetic condition affecting the way the face develops — especially the cheekbones, jaws, ears and eyelids.

These differences often cause problems with breathing, swallowing, chewing, hearing and speech. Treacher Collins syndrome (TCS) is a rare condition.

Treacher Collins syndrome: MedlinePlus Medical Encyclopedia

Babies who have it are born with deformed ears, eyelids, cheek bones, and jawbones. There is no cure, but surgery can make a big difference.

Treacher Collins syndrome is a condition that affects the development of bones and other tissues of the face. The signs and symptoms of this disorder vary greatly, ranging from almost unnoticeable to severe.

Treacher Collins Syndrome - Pictures, Facts, Symptoms, Treatment, Causes