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"

13 matching diseasesClear search ×

Postaxial acrofacial dysostosis

Miller syndrome · POADS

ORPHA:246

Acrocraniofacial dysostosis

Kaplan-Plauchu-Fitch syndrome

ORPHA:949

Acrofacial dysostosis

ORPHA:364574

Acrofacial dysostosis, Catania type

Opitz-Caltabiano syndrome

ORPHA:1786

Acrofacial dysostosis, Kennedy-Teebi type

Kennedy-Teebi syndrome

ORPHA:64542

Acrofacial dysostosis, Palagonia type

ORPHA:1787

Acrofacial dysostosis, Rodríguez type

ORPHA:1788

Acrofacial dysostosis, Weyers type

Curry-Hall syndrome · Weyers acrodental dysostosis

ORPHA:952

Acrofrontofacionasal dysostosis

Richieri-Costa-Colletto syndrome

ORPHA:1784

Hypertelorism-hypospadias-polysyndactyly syndrome

Naguib-Richieri-Costa syndrome · Acrofrontofacionasal dysostosis type 2

ORPHA:2211

Mandibulofacial dysostosis-microcephaly syndrome

MFDM syndrome · Mandibulofacial dysostosis, Guion-Almeida type

ORPHA:79113

Nager syndrome

Mandibulofacial dysostosis with preaxial limb anomalies · NAFD

ORPHA:245

X-linked mandibulofacial dysostosis

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

ORPHA:1131