Disease Directory Aplasia cutis congenita
Rare Disease

Aplasia cutis congenita

Type

Malformation syndrome

Gene

PLEC, ITGB4, BMS1, DLL4, UBA2

About Aplasia cutis congenita

Aplasia cutis congenita is a rare disease catalogued by Orphanet (ORPHA:1114). It is associated with the PLEC, ITGB4, BMS1 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 Aplasia cutis congenita trials.

Search ClinicalTrials.gov for "Aplasia cutis congenita" or filter by Orphanet code ORPHA:1114 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:1114)

View on Orphanet ↗

NORD

National Organization for Rare Disorders

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Find recruiting Aplasia cutis congenita trials

Search 500,000+ studies from ClinicalTrials.gov, filtered for Aplasia cutis congenita. Updated daily.