DRKS00030327
Recruiting
Not Applicable
Description of the clinical picture of adults with rare genetic syndromes - 2022-2019-HUM-ADULT
Overview
- Phase
- Not Applicable
- Intervention
- Not specified
- Conditions
- icolaides-Baraitser syndromeCoffin-Siris syndromeCostello syndromeCardiofaziocutaneous (CFC) syndrome
- Sponsor
- Heinrich-Heine-Universität Düsseldorf
- Enrollment
- 100
- Status
- Recruiting
- Last Updated
- last year
Overview
Brief Summary
No summary available.
Investigators
Eligibility 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
- •\- Individuals with a syndromal disease without molecular genetic confirmation.
- •\- Age\<18 years
- •\- No consent for data collection in the context of this study
Outcomes
Primary Outcomes
Not specified
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