Disease Directory Mandibulofacial dysostosis-microcephaly syndrome
Connective Tissue

Mandibulofacial dysostosis-microcephaly syndrome

Type

Malformation syndrome

Gene

EFTUD2

About Mandibulofacial dysostosis-microcephaly syndrome

Mandibulofacial dysostosis-microcephaly syndrome is a rare disease catalogued by Orphanet (ORPHA:79113). It is associated with the EFTUD2 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 Mandibulofacial dysostosis-microcephaly syndrome trials.

Search ClinicalTrials.gov for "Mandibulofacial dysostosis-microcephaly syndrome" or filter by Orphanet code ORPHA:79113 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:79113)

View on Orphanet ↗

NORD

National Organization for Rare Disorders

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Find recruiting Mandibulofacial dysostosis-microcephaly syndrome trials

Search 500,000+ studies from ClinicalTrials.gov, filtered for Mandibulofacial dysostosis-microcephaly syndrome. Updated daily.