Treacher Collins syndrome: Genectis and OSAS

Treacher Collins syndrome: Genectis and OSAS - Treacher Collins Syndrome

Status

Recruiting

Phases

Unknown

Study type

Observational

Source

NL-OMON

Registry ID

NL-OMON33933

Enrollment

Registered

2009-03-03

Start date

2009-09-01

Completion date

Unknown

Last updated

2024-05-13

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Obstructive Sleep Apnea Syndrome (OSAS) Treacher Collins Syndrome

Interventions

None listed

Eligibility

Age

2 Years to 99 Years

Inclusion criteria

Inclusion criteria: - Treacher Collins Syndrome diagnosis - Treated in the Erasmus MC, University Medical Center craniofacial center - Informed consent - Dutch-speakers who are able to answer the questions in the questionnaires

Exclusion criteria

Exclusion criteria: - Patients who are not able to speak and understand Dutch

Design outcomes

Primary

Measure	Time frame
1. Newly found yet undiscoverd mutations in the TCOF1 gene 2. OSAS parameters will be defined in this TCS population and the natural course, severity, prevalence and potential metabolic and physical effects of OSAS in this population will be determined.	—

Secondary

Measure	Time frame
1. length, weight and bloodpressure will be determined in the TCS population	—

Countries

Netherlands

Outcome results