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"

9 matching diseasesClear search ×

Acromelic frontonasal dysplasia

Acromelic frontonasal dysostosis · AFND

ORPHA:1827

Acrocraniofacial dysostosis

Kaplan-Plauchu-Fitch syndrome

ORPHA:949

Acrodysostosis

Acrodysplasia · Arkless-Graham syndrome

ORPHA:950

Acrofacial dysostosis

ORPHA:364574

Acrofrontofacionasal dysostosis

Richieri-Costa-Colletto syndrome

ORPHA:1784

Frontonasal dysplasia

Median cleft face syndrome

ORPHA:250

Hypertelorism-hypospadias-polysyndactyly syndrome

Naguib-Richieri-Costa syndrome · Acrofrontofacionasal dysostosis type 2

ORPHA:2211

Maxillonasal dysplasia

Binder syndrome · Maxillonasal dysostosis

ORPHA:1248

Nager syndrome

Mandibulofacial dysostosis with preaxial limb anomalies · NAFD

ORPHA:245