Disease Directory SPECC1L-related hypertelorism syndrome
Rare Disease

SPECC1L-related hypertelorism syndrome

Type

Malformation syndrome

Gene

SPECC1L

About SPECC1L-related hypertelorism syndrome

SPECC1L-related hypertelorism syndrome is a rare disease catalogued by Orphanet (ORPHA:1519). It is associated with the SPECC1L gene. 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 SPECC1L-related hypertelorism syndrome trials.

Search ClinicalTrials.gov for "SPECC1L-related hypertelorism syndrome" or filter by Orphanet code ORPHA:1519 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

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Orphanet

European reference resource for rare diseases (ORPHA:1519)

View on Orphanet ↗

NORD

National Organization for Rare Disorders

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Find recruiting SPECC1L-related hypertelorism syndrome trials

Search 500,000+ studies from ClinicalTrials.gov, filtered for SPECC1L-related hypertelorism syndrome. Updated daily.