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"

10 matching diseasesClear search ×

Acro-renal-mandibular syndrome

Split hand/split foot-mandibular hypoplasia syndrome

ORPHA:958

Hand-foot-genital syndrome

HFGS · Hand-foot-uterus syndrome

ORPHA:2438

Karsch-Neugebauer syndrome

Split hand/split foot-nystagmus syndrome

ORPHA:2329

Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome

MDPL syndrome · MDP syndrome

ORPHA:363649

Mandibuloacral dysplasia associated to MTX2

Mandibuloacral dysplasia progeroid syndrome · MADaM

ORPHA:647667

Oromandibular-limb hypogenesis syndrome

Oroacral syndrome

ORPHA:2749

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

Split hand-split foot-deafness syndrome

Split hand-split foot-hearing loss syndrome

ORPHA:71271

Ulnar hypoplasia-split foot syndrome

Ulnar hypoplasia-lobster-claw deformity of feet syndrome · Van den Berghe-Dequecker syndrome

ORPHA:1122