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"

34 matching diseasesClear search ×

McKusick-Kaufman syndrome

Hydrometrocolpos-postaxial polydactyly syndrome · Kaufman-Mckusick syndrome

ORPHA:2473

Acropectoral syndrome

ACRP syndrome · Syndactyly-preaxial polydactyly-sternal deformity syndrome

ORPHA:85203

Biemond syndrome type 2

Hypogonadism-short stature-coloboma-preaxial polydactyly syndrome

ORPHA:141333

Blepharophimosis-intellectual disability syndrome, SBBYS type

SBBYS variant of Ohdo syndrome · Hypothyroidism-dysmorphism-postaxial polydactyly-intellectual disability syndrome

ORPHA:3047

Brachydactyly-preaxial hallux varus syndrome

ORPHA:1278

Brain malformation-congenital heart disease-postaxial polydactyly syndrome

Goossens-Devriendt syndrome

ORPHA:75389

Dandy-Walker malformation-postaxial polydactyly syndrome

DWM with postaxial polydactyly · Pierquin syndrome

ORPHA:1566

Ectrodactyly-polydactyly syndrome

ORPHA:1892

Guttmacher syndrome

Preaxial deficiency-postaxial polydactyly-hypospadias syndrome

ORPHA:2957

Hallux varus-preaxial polysyndactyly syndrome

Kleiner-Holmes syndrome

ORPHA:2110

Holoprosencephaly-postaxial polydactyly syndrome

Pseudo-trisomy 13 syndrome

ORPHA:2166

Hypoplastic tibiae-postaxial polydactyly syndrome

Werner mesomelic syndrome · Hypoplastic tibia-polydactyly syndrome

ORPHA:3332

Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome

MPPH syndrome

ORPHA:83473

Non-syndromic polydactyly

ORPHA:2913

Non-syndromic postaxial polydactyly

ORPHA:498467

Non-syndromic preaxial polydactyly

ORPHA:498464

OBSOLETE: Hypopituitarism-postaxial polydactyly syndrome

ORPHA:2245

OBSOLETE: Postaxial polydactyly of fingers

OBSOLETE: Postaxial polydactyly of hand

ORPHA:294942

Oliver syndrome

Postaxial polydactyly-intellectual disability syndrome

ORPHA:2920

Polydactyly-myopia syndrome

Czeizel-Brooser syndrome

ORPHA:2917

Postaxial polydactyly type A

ORPHA:93334

Postaxial polydactyly type B

ORPHA:93335

Postaxial polydactyly-dental and vertebral anomalies syndrome

ORPHA:2916

Scalp defects-postaxial polydactyly syndrome

ORPHA:1003

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

Split-foot malformation-mesoaxial polydactyly syndrome

SFMMP · Split-foot malformation-mesoaxial polydactyly-nail abnormalities-sensorineural hearing loss syndrome

ORPHA:488232

Syndactyly-polydactyly-ear lobe syndrome

ORPHA:3259

Temtamy preaxial brachydactyly syndrome

ORPHA:363417

Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome

Absent tibia-polydactyly syndrome · Werner mesomelic spectrum

ORPHA:988