Disease Directory Septo-optic dysplasia spectrum
Rare Disease

Septo-optic dysplasia spectrum

Type

Malformation syndrome

Gene

PROKR2, SOX2, FGFR1, HESX1, OTX2, SOX3

About Septo-optic dysplasia spectrum

Septo-optic dysplasia spectrum is a rare disease catalogued by Orphanet (ORPHA:3157). It is associated with the PROKR2, SOX2, FGFR1 genes. Search below for active recruiting clinical trials from ClinicalTrials.gov, or visit the Orphanet expert page for specialist centres, natural history studies, and patient registries.

Clinical Trial Eligibility Tips

What to know before applying to Septo-optic dysplasia spectrum trials.

Search ClinicalTrials.gov for "Septo-optic dysplasia spectrum" or filter by Orphanet code ORPHA:3157 to find disease-specific studies.

Ask your specialist to refer you to a Centre of Expertise — Orphanet lists all accredited centres for this condition worldwide.

Natural history studies and patient registries often enrol before drug trials open — contact the Orphanet patient community first.

Patient Resources

Patient Organization

Orphanet

Visit website ↗

Orphanet

European reference resource for rare diseases (ORPHA:3157)

View on Orphanet ↗

NORD

National Organization for Rare Disorders

Search NORD ↗

Find recruiting Septo-optic dysplasia spectrum trials

Search 500,000+ studies from ClinicalTrials.gov, filtered for Septo-optic dysplasia spectrum. Updated daily.