PHACE Syndrome
Conditions
Brief summary
Investigation for potential PHACE syndrome gene.
Detailed description
Subjects with PHACE syndrome diagnosis will undergo a brief physical examination with possible external photographs. Cheek swabs will be sent for genetic analysis. Subjects will be notified of the results.
Interventions
OTHERDiagnostic study only
Diagnostic study only
Sponsors
Vanderbilt University Medical Center
Study design
Observational model
CASE_ONLY
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Healthy volunteers
No
Inclusion criteria
* PHACE syndrome diagnosis * Must be willing to have an eye examination * Must be willing to undergo genetic testing
Exclusion criteria
* No PHACE syndrome diagnosis
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Potential PHACE Gene Identification | 3 years | Evaluation for potential PHACE gene |
Countries
United States
Outcome results
None listed