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 ×

X-linked mandibulofacial dysostosis

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

ORPHA:1131

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

Hypomandibular faciocranial dysostosis

ORPHA:1790

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

Nager syndrome

Mandibulofacial dysostosis with preaxial limb anomalies · NAFD

ORPHA:245

OBSOLETE: Mandibulofacial dysostosis-lymphedema syndrome

ORPHA:99143

Oculomaxillofacial dysostosis

Richieri-Costa-Gorlin syndrome

ORPHA:1794

Otomandibular syndrome

First branchial arch syndrome · Laterofacial microsomia

ORPHA:141136

Patterson-Stevenson-Fontaine syndrome

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

ORPHA:2439

Postaxial acrofacial dysostosis

Miller syndrome · POADS

ORPHA:246

Treacher-Collins syndrome

Franceschetti-Klein syndrome · Mandibulofacial dysostosis without limb anomalies

ORPHA:861