Nicolaides-Baraitser syndrome Coffin-Siris syndrome Costello syndrome Cardiofaziocutaneous (CFC) syndrome Q87.8
Conditions
Interventions
Group 1: Non-interventional Study: prospective data collection by questionnaire (Questionnaire_Study:"Description of the clinical picture of adults with rare genetic syndromes")
Sponsors
Heinrich-Heine-Universität Düsseldorf
Eligibility
Sex/Gender
All
Age
18 Years to No maximum
Inclusion criteria
Inclusion criteria: - Molecularly confirmed diagnosis of one of the following four syndromes: Nicolaides-Baraitser syndrome Coffin-Siris syndrome Costello syndrome CFC (Cardio-facio-cutaneous) syndrome - Written informed consent from the participant or the legal guardian if the participant has a legal guardian.
Exclusion criteria
Exclusion criteria: - Individuals with a syndromal disease without molecular genetic confirmation. - Age<18 years - No consent for data collection in the context of this study
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Descriptive study of the adult phenotype of patients with rare genetic diseases. Aim of the study is to increase the knowledge in the field of those rare syndromal diseases and thereby contribute to an improvement in the care and prevention options for the patients. | — |
Secondary
| Measure | Time frame |
|---|---|
| no secondary outcome | — |
Countries
Germany
Contacts
Public ContactDagmar Wieczorek
Institut für HumangenetikUniversitätsklinikum Düsseldorf
Outcome results
None listed