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"

24 matching diseasesClear search ×

Goodman syndrome

ACPS4 · Acrocephalopolysyndactyly type 4

ORPHA:65798

Acrocephalopolydactyly

Acrocephalopolydactylous dysplasia · Elejalde acrocephalopolydactyly

ORPHA:221054

Apert syndrome

ACS1 · Acrocephalosyndactyly type 1

ORPHA:87

Aurocephalosyndactyly

Auralcephalosyndactyly · Kurczynski-Casperson syndrome

ORPHA:1219

Carpenter syndrome

ACPS2 · Acrocephalopolysyndactyly type 2

ORPHA:65759

Cenani-Lenz syndrome

Cenani syndactyly · Cenani-Lenz syndactyly

ORPHA:3258

Greig cephalopolysyndactyly syndrome

GCPS

ORPHA:380

Mesoaxial synostotic syndactyly with phalangeal reduction

MSSD · Syndactyly type 9

ORPHA:157801

OBSOLETE: Acrocephalosyndactyly

OBSOLETE: Acrocephalosyndactylia

ORPHA:946

OBSOLETE: Sakati-Nyhan syndrome

OBSOLETE: ACPS III · OBSOLETE: Sakati syndrome

ORPHA:3128

Pfeiffer syndrome

ACS5 · Acrocephalosyndactyly type 5

ORPHA:710

Polysyndactyly

PPD4 · Preaxial polydactyly type 4

ORPHA:93338

Saethre-Chotzen syndrome

ACS3 · Acrocephalosyndactyly type 3

ORPHA:794

Syndactyly type 1

ORPHA:93402

Syndactyly type 2

Synpolydactyly

ORPHA:93403

Syndactyly type 3

SD3 · Syndactyly of fingers 4 and 5

ORPHA:93404

Syndactyly type 4

Polysyndactyly, Haas type

ORPHA:93405

Syndactyly type 5

Postaxial syndactyly with metacarpal synostosis · SD5

ORPHA:93406

Syndactyly type 6

Mitten hand · Syndactyly, mitten type

ORPHA:295012

Syndactyly type 8

Fusion of metacarpals 4 and 5

ORPHA:2498

Zygodactyly type 1

SD1, Weidenreich type · SD1a

ORPHA:295187

Zygodactyly type 2

SD1, Lueken type · SD1b

ORPHA:295189

Zygodactyly type 3

SD1, Montagu type · SD1c

ORPHA:295191

Zygodactyly type 4

SD1, Castilla type · SD1d

ORPHA:295193