Disease Directory Megalencephaly-severe kyphoscoliosis-overgrowth syndrome
Rare Disease

Megalencephaly-severe kyphoscoliosis-overgrowth syndrome

Type

Malformation syndrome

Gene

HERC1

About Megalencephaly-severe kyphoscoliosis-overgrowth syndrome

Megalencephaly-severe kyphoscoliosis-overgrowth syndrome is a rare disease catalogued by Orphanet (ORPHA:457359). It is associated with the HERC1 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 Megalencephaly-severe kyphoscoliosis-overgrowth syndrome trials.

Search ClinicalTrials.gov for "Megalencephaly-severe kyphoscoliosis-overgrowth syndrome" or filter by Orphanet code ORPHA:457359 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:457359)

View on Orphanet ↗

NORD

National Organization for Rare Disorders

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Find recruiting Megalencephaly-severe kyphoscoliosis-overgrowth syndrome trials

Search 500,000+ studies from ClinicalTrials.gov, filtered for Megalencephaly-severe kyphoscoliosis-overgrowth syndrome. Updated daily.