NeurometPlus

Incidence

The syndrome is familial and is transmitted as an autosomal dominant trait. In approximately 40 percent of cases, Treacher Collins Syndrome is inherited as an autosomal dominant genetic trait, passed on by an affected parent. However, in about 60 percent of cases, a positive family history is not found. Such cases represent new genetic changes (mutations) that occur randomly, with no apparent cause (sporadic).

Clinical Characteristics

Treacher Collins syndrome is a disorder of craniofacial development. The features include antimongoloid slant of the eyes, coloboma of the lid, micrognathia, microtia and other deformity of the ears, hypoplastic zygomatic arches, and macrostomia. Conductive hearing loss and cleft palate are often present. Delayed-onset infantile cataracts may occur. It is a syndrome with variable expressivity, largely involving structures derived from the first pharyngeal arch, groove or pouch. It is characterized mainly by fishlike facies with receding chin, downward sloping palpebral fissures, colobomas of the eyelids, macrostomia, dysplastic ears, and other anomalies. Ear malformations are usually associated with hearing loss. Orofacial defects are symmetrical and differ from those in oculo-auriculovertebral dysplasia which generally affect one side of the body. Mental retardation occurs in some cases.

Precipitants

None

Provocation Tests

None

Diagnostic Procedures

It is a clinical diagnosis.