Description of the clinical picture of adults with rare genetic syndromes

Recruiting

• Conditions: icolaides-Baraitser syndromeCoffin-Siris syndromeCostello syndromeCardiofaziocutaneous (CFC) syndrome; Q87.8; Other specified congenital malformation syndromes, not elsewhere classified

• Registration Number: DRKS00030327
• Lead Sponsor: Heinrich-Heine-Universität Düsseldorf

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Study Start: 2022-09-22
• Last Update Posted: 19 August 2024

Recruitment & Eligibility

• Status: Recruiting
• Sex: All
• Target Recruitment: 100

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

Study & Design

• Study Type: observational
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
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 Outcome Measures

Name	Time	Method
no secondary outcome