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"

11 matching diseasesClear search ×

Patterson-Stevenson-Fontaine syndrome

Patterson-Stevenson syndrome · Split foot deformity-mandibulofacial dysostosis syndrome

ORPHA:2439

Acro-renal-mandibular syndrome

Split hand/split foot-mandibular hypoplasia syndrome

ORPHA:958

Emery-Nelson syndrome

Hand and foot deformity-flat facies syndrome

ORPHA:1927

Hallermann-Streiff syndrome

François dyscephalic syndrome · Oculomandibulofacial syndrome

ORPHA:2108

Mandibulofacial dysostosis

Bilateral and symmetric oto-mandibular dysplasia

ORPHA:155899

Mandibulofacial dysostosis with alopecia

MFDA

ORPHA:443995

Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome

Macroblepharon-ectropion-hypertelorism-macrostomia syndrome

ORPHA:357158

Mandibulofacial dysostosis-microcephaly syndrome

MFDM syndrome · Mandibulofacial dysostosis, Guion-Almeida type

ORPHA:79113

OBSOLETE: Mandibulofacial dysostosis-deafness-postaxial polydactyly syndrome

OBSOLETE: Opitz-Reynolds-Fitzgerald syndrome

ORPHA:2458

OBSOLETE: Mandibulofacial dysostosis-lymphedema syndrome

ORPHA:99143

X-linked mandibulofacial dysostosis

Mandibulofacial dysostosis, Toriello type · X-linked branchial arch syndrome

ORPHA:1131