Epidemiology, diagnosis and clinical picture of PHACE Syndrome and Sturge-Weber Syndrome in Germany, Switzerland and Austria

• Conditions: Q28.8; Q85.8; Other specified congenital malformations of circulatory system; Other phakomatoses, not elsewhere classified

• Registration Number: DRKS00013551
• Lead Sponsor: Klinik für Allgemeine Pädiatrie und Neonatologie, Universitätsklinikum des Saarlandes

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Study Start: 2017-12-27
• Study Completion: 2019-08-01
• Last Update Posted: 19 August 2024

Recruitment & Eligibility

• Status: Complete
• Sex: All
• Target Recruitment: 57

Inclusion Criteria

Positive Diagnosis of PHACE Syndrome OR Sturge-Weber Syndrome by a medical doctor, e.g. pediatrician, family physician, geneticist

Exclusion Criteria

None

Study & Design

• Study Type: observational
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Prevalence of PHACE Syndrome and Sturge-Weber Syndrome in Germany, Switzerland and Austria<br>(treatment prevalence).<br>As a first step, we contact neuropediatricians in Germany, Switzerland and Austria via email, who recruit affected families. Then, we assess medical data via questionnaire handed out to the families and neuropediatricians.

Secondary Outcome Measures

Name	Time	Method
Data assessment via once-only questionnaire handed out to affected families and neuropediatricians: prenatal risk factors and anomalies,<br>clinical symptoms, diagnostic procedures including genetic analyses, therapy strategies and their effectiveness<br>