Treacher-Collins syndrome and differential diagnosis [28 genes]

Treacher-Collins syndrome is characterized by malar hypoplasia, micrognathia, and external ear anomalies. Hypoplasia of the zygomatic bones and jaw can cause breathing and feeding difficulties. Around 40%-50% of individuals present decreased conductive hearing due to malformation of the ossicles and hypoplasia of the middle ear cavities. The structures of the inner ear are usually normal. Other less common anomalies are cleft palate and unilateral or bilateral choanal stenosis or atresia. Intellectual capacity is usually ordinary.

Treacher-Collins syndrome: 1-9 / 100,000 (ORPHA:861).

The benefits derived from a genetic diagnosis in this context are especially aimed at closing the diagnosis and family genetic counseling.

Service is indicated when the disease is suspected based on characteristic craniofacial and/or radiographic findings.

Using an exome approach, which allows for identifying SNVs and CNVs, it is possible to find the molecular cause in 97% of patients since, in up to 3% of patients, the cause remains unknown.