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"

26 matching diseasesClear search ×

Gordon syndrome

Distal arthrogryposis type 3 · Distal arthrogryposis type IIA

ORPHA:376

Abruzzo-Erickson syndrome

CHARGE-like syndrome · Cleft palate-coloboma-deafness syndrome

ORPHA:921

Acrocardiofacial syndrome

ACFS · CCGE syndrome

ORPHA:2008

Bamforth-Lazarus syndrome

Athyroidal hypothyroidism-spiky hair-cleft palate syndrome · Bamforth syndrome

ORPHA:1226

Camptodactyly syndrome, Guadalajara type 1

ORPHA:1327

Camptodactyly syndrome, Guadalajara type 2

ORPHA:1326

Camptodactyly syndrome, Guadalajara type 3

ORPHA:488434

Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome

Pericarditis-arthropathy-camptodactyly syndrome · Arthropathy-camptodactyly syndrome

ORPHA:2848

Camptodactyly-joint contractures-facial skeletal defects syndrome

Rozin camptodactyly syndrome

ORPHA:1323

Camptodactyly-taurinuria syndrome

Familial streblodactyly with amino-aciduria

ORPHA:1325

Cleft lip/palate

Alveolar cleft lip and palate · Cleft lip and palate

ORPHA:199306

Cleft lip/palate-ectodermal dysplasia syndrome

CLPED1 · Cleft lip/palate-syndactyly-pili torti syndrome

ORPHA:3253

Cleft palate-lateral synechia syndrome

CPLS syndrome

ORPHA:2016

Ectrodactyly-cleft palate syndrome

ECP syndrome

ORPHA:1889

Ectrodactyly-ectodermal dysplasia without clefting syndrome

EEC syndrome without cleft lip/palate

ORPHA:1888

EEC syndrome

Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome

ORPHA:1896

Hartsfield syndrome

Holoprosencephaly-ectrodactyly-cleft lip/palate syndrome

ORPHA:2117

Lethal omphalocele-cleft palate syndrome

Czeizel syndrome

ORPHA:2736

Lewis-Pashayan syndrome

Cleft lip/palate-ectrodactyly syndrome

ORPHA:2389

Mesomelic dwarfism-cleft palate-camptodactyly syndrome

Reardon-Hall-Slaney syndrome · Mesomelic dysplasia, Reardon type

ORPHA:2631

OBSOLETE: Lymphedema-cleft palate syndrome

ORPHA:86917

Orofaciodigital syndrome type 6

Joubert syndrome with oral-facial-digital syndrome · OFD6

ORPHA:2754

Spondylocamptodactyly syndrome

ORPHA:3180

Syngnathia-cleft palate syndrome

ORPHA:3263

Tel Hashomer camptodactyly syndrome

Camptodactyly-muscular hypoplasia-skeletal anomalies-abnormal palmar creases syndrome

ORPHA:3292

Trismus-pseudocamptodactyly syndrome

Distal arthrogryposis type 7 · Dutch-Kentucky syndrome

ORPHA:3377