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"

14 matching diseasesClear search ×

Hypertelorism-hypospadias-polysyndactyly syndrome

Naguib-Richieri-Costa syndrome · Acrofrontofacionasal dysostosis type 2

ORPHA:2211

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

Acromelic frontonasal dysplasia

Acromelic frontonasal dysostosis · AFND

ORPHA:1827

Frontofacionasal dysplasia

Gollop syndrome

ORPHA:1791

Frontonasal dysplasia-alopecia-genital anomalies syndrome

ALX4-related FNDAG · Craniofrontonasal dysplasia with alopecia and hypogonadism

ORPHA:228390

Nager syndrome

Mandibulofacial dysostosis with preaxial limb anomalies · NAFD

ORPHA:245

Postaxial acrofacial dysostosis

Miller syndrome · POADS

ORPHA:246