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"

28 matching diseasesClear search ×

Hypoplastic tibiae-postaxial polydactyly syndrome

Werner mesomelic syndrome · Hypoplastic tibia-polydactyly syndrome

ORPHA:3332

Absent tibia-polydactyly-arachnoid cyst syndrome

Holmes-Collins syndrome

ORPHA:3328

Ectrodactyly-polydactyly syndrome

ORPHA:1892

Guttmacher syndrome

Preaxial deficiency-postaxial polydactyly-hypospadias syndrome

ORPHA:2957

Hypertelorism-hypospadias-polysyndactyly syndrome

Naguib-Richieri-Costa syndrome · Acrofrontofacionasal dysostosis type 2

ORPHA:2211

Hypoglossia-hypodactyly syndrome

Aglossia-adactylia syndrome · Hanhart syndrome

ORPHA:989

Hypoplastic left heart syndrome

HLHS

ORPHA:2248

Hypoplastic right heart syndrome

ORPHA:98723

McKusick-Kaufman syndrome

Hydrometrocolpos-postaxial polydactyly syndrome · Kaufman-Mckusick syndrome

ORPHA:2473

Non-syndromic complex polydactyly

ORPHA:498470

Non-syndromic polydactyly

ORPHA:2913

Non-syndromic polydactyly, syndactyly and/or hyperphalangy

ORPHA:93458

Non-syndromic postaxial polydactyly

ORPHA:498467

Non-syndromic preaxial polydactyly

ORPHA:498464

OBSOLETE: Hypopituitarism-postaxial polydactyly syndrome

ORPHA:2245

Polydactyly-myopia syndrome

Czeizel-Brooser syndrome

ORPHA:2917

Radial deficiency-tibial hypoplasia syndrome

ORPHA:1121

Scalp defects-postaxial polydactyly syndrome

ORPHA:1003

Serrated polyposis syndrome

Hyperplastic polyposis syndrome

ORPHA:157798

Short rib-polydactyly syndrome

ORPHA:1505

Short rib-polydactyly syndrome type 5

ORPHA:498497

Short rib-polydactyly syndrome, Beemer-Langer type

Short rib-polydactyly syndrome type 4

ORPHA:93268

Short rib-polydactyly syndrome, Majewski type

Short rib-polydactyly syndrome type 2

ORPHA:93269

Short rib-polydactyly syndrome, Saldino-Noonan type

Short rib-polydactyly syndrome type 1

ORPHA:93270

Short rib-polydactyly syndrome, Verma-Naumoff type

Short rib-polydactyly syndrome type 3

ORPHA:93271

Syndactyly-polydactyly-ear lobe syndrome

ORPHA:3259

Tibial aplasia-ectrodactyly syndrome

Aplasia of tibia with split-hand/split-foot deformity · SHFLD syndrome

ORPHA:3329

Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome

Absent tibia-polydactyly syndrome · Werner mesomelic spectrum

ORPHA:988