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"

27 matching diseasesClear search ×

Hartsfield syndrome

Holoprosencephaly-ectrodactyly-cleft lip/palate syndrome

ORPHA:2117

Acrocardiofacial syndrome

ACFS · CCGE syndrome

ORPHA:2008

Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome

AEC syndrome · Hay-Wells syndrome

ORPHA:1071

Blepharo-cheilo-odontic syndrome

BCD syndrome · Blepharocheilodontic syndrome

ORPHA:1997

Cleft lip/palate

Alveolar cleft lip and palate · Cleft lip and palate

ORPHA:199306

Cleft lip/palate-deafness-sacral lipoma syndrome

Cleft lip/palate-hearing loss-sacral lipoma syndrome · Lowry-Yong syndrome

ORPHA:2003

Cleft lip/palate-ectodermal dysplasia syndrome

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

ORPHA:3253

Contractures-ectodermal dysplasia-cleft lip/palate syndrome

Ladda-Zonana-Ramer syndrome

ORPHA:1484

Ectrodactyly-cleft palate syndrome

ECP syndrome

ORPHA:1889

Ectrodactyly-ectodermal dysplasia without clefting syndrome

EEC syndrome without cleft lip/palate

ORPHA:1888

Ectrodactyly-polydactyly syndrome

ORPHA:1892

EEC syndrome

Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome

ORPHA:1896

EEC syndrome and related disorders

EEC syndrome and related syndrome · Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome and related disorders

ORPHA:98609

Gordon syndrome

Distal arthrogryposis type 3 · Distal arthrogryposis type IIA

ORPHA:376

Holoprosencephaly-caudal dysgenesis syndrome

ORPHA:2165

Holoprosencephaly-craniosynostosis syndrome

Camero-Lituania-Cohen syndrome · Genoa syndrome

ORPHA:2163

Holoprosencephaly-postaxial polydactyly syndrome

Pseudo-trisomy 13 syndrome

ORPHA:2166

Juberg-Hayward syndrome

Cleft lip/palate-abnormal thumbs-microcephaly syndrome · Orocraniodigital syndrome

ORPHA:2319

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: Blepharoptosis-cleft palate-ectrodactyly-dental anomalies syndrome

OBSOLETE: Rodini-Richieri Costa syndrome

ORPHA:1258

OBSOLETE: Cleft lip/palate-ectodermal dysplasia syndrome

ORPHA:320317

Orofaciodigital syndrome type 6

Joubert syndrome with oral-facial-digital syndrome · OFD6

ORPHA:2754

Pancreatic agenesis-holoprosencephaly syndrome

ORPHA:556955

Rapp-Hodgkin syndrome

Ectodermal dysplasia syndrome, Rapp-Hodgkin type · Ectodermal dysplasia, Rapp-Hodgkin type

ORPHA:3022

Thomas syndrome

Potter sequence-cleft lip/palate-cardiopathy syndrome

ORPHA:3316