Clinical Guidance

Treacher Collins syndrome (TCS) is characterized by bilateral and symmetric downslanted palpebral fissures, malar hypoplasia, and micro- or retrognathia. Hypoplasia of the zygomatic bones, maxilla, and mandible can cause significant respiratory and feeding difficulties. Ear abnormalities are associated with conductive hearing loss. Other, less common abnormalities include cleft palate and unilateral or bilateral choanal stenosis or atresia. Significant inter- and intrafamilial clinical variability is common. While some individuals may be so mildly affected as to go undiagnosed, others can have severe facial involvement and life-threatening airway compromise . To date, more than 5,000 individuals have been identified with a pathogenic variant in one of the genes listed in .

Diagnostic Criteria

No consensus clinical diagnostic criteria for Treacher Collins syndrome (TCS) have been published.

Suggestive Findings

TCS should be suspected in probands with the following craniofacial features, conductive hearing loss, and radiographic features.

Craniofacial features

Source: GeneReviews — "Treacher Collins Syndrome"

Management Guidelines

No clinical practice guidelines for Treacher Collins syndrome (TCS) have been published. In the absence of published guidelines, the following recommendations are based on the authors' personal experience managing individuals with this disorder. Evaluations Following Initial Diagnosis To establish the extent of disease and needs in an individual diagnosed with TCS, the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended. Table 4. Treacher Collins Syndrome: Recommended Evaluations Following Initial Diagnosis

Surveillance Guidelines

To monitor existing manifestations, the individual's response to supportive care, and the emergence of new manifestations, the evaluations summarized in are recommended. Table 5. Recommended Surveillance for Individuals with Treacher Collins Syndrome