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"

19 matching diseasesClear search ×

Crouzon syndrome

Crouzon craniofacial dysostosis

ORPHA:207

Acrocraniofacial dysostosis

Kaplan-Plauchu-Fitch syndrome

ORPHA:949

Acrofacial dysostosis

ORPHA:364574

Acrofacial dysostosis, Catania type

Opitz-Caltabiano syndrome

ORPHA:1786

Acrofacial dysostosis, Palagonia type

ORPHA:1787

Acrofacial dysostosis, Rodríguez type

ORPHA:1788

Acrofacial dysostosis, Weyers type

Curry-Hall syndrome · Weyers acrodental dysostosis

ORPHA:952

Cleidocranial dysplasia

Cleidocranial dysostosis

ORPHA:1452

Craniofacial dysostosis-diaphyseal hyperplasia syndrome

Autosomal dominant osteosclerosis, Stanescu type · Dysostosis, Stanescu type

ORPHA:1798

Diprosopus

Diprosopia · Craniofacial duplication

ORPHA:1681

Dysostosis

ORPHA:364559

Dysostosis with predominant craniofacial involvement

ORPHA:93453

Facial cleft

Craniofacial cleft

ORPHA:141229

Gorlin-Chaudhry-Moss syndrome

Craniofacial dysostosis-genital, dental, cardiac anomalies syndrome · Cranofacial dysostosis-hypertrichosis-hypoplasia of labia majora syndrome

ORPHA:2095

Hypomandibular faciocranial dysostosis

ORPHA:1790

Mandibulofacial dysostosis

Bilateral and symmetric oto-mandibular dysplasia

ORPHA:155899

Nager syndrome

Mandibulofacial dysostosis with preaxial limb anomalies · NAFD

ORPHA:245

Oculomaxillofacial dysostosis

Richieri-Costa-Gorlin syndrome

ORPHA:1794

Postaxial acrofacial dysostosis

Miller syndrome · POADS

ORPHA:246