Rare Disease Library

Browse Orphanet-curated rare diseases with HPO phenotype annotations, synonyms, and linked support programs. Search by name, abbreviation, or synonym.

Try: "IgA nephropathy", "C3G", "Berger's disease", "PKU", "Duchenne"

3 matching diseasesClear search ×

Median cleft lip/mandible

Median mandibular cleft · Median cleft lower facial stage

ORPHA:2006

Frontonasal dysplasia

Median cleft face syndrome

ORPHA:250

Median facial cleft

Midline facial cleft · Tessier number 0-14 and 30 facial cleft

ORPHA:141234