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"

46 matching diseasesClear search ×

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

Acrocardiofacial syndrome

ACFS · CCGE syndrome

ORPHA:2008

Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome

AEC syndrome · Hay-Wells syndrome

ORPHA:1071

AREDYLD syndrome

Acrorenal defect-ectodermal dysplasia-diabetes syndrome

ORPHA:1133

Arthrogryposis-ectodermal dysplasia syndrome

Stoll-Alembik-Finck syndrome

ORPHA:3200

Blepharo-cheilo-odontic syndrome

BCD syndrome · Blepharocheilodontic syndrome

ORPHA:1997

Brachydactyly-elbow wrist dysplasia syndrome

Brachydactyly-joint dysplasia syndrome · Liebenberg syndrome

ORPHA:1275

Cerebellar ataxia-ectodermal dysplasia syndrome

ORPHA:1174

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

Cleft palate-lateral synechia syndrome

CPLS syndrome

ORPHA:2016

Congenital heart defect-ectodermal dysplasia- brachydactyly-telangiectasia syndrome

Telangiectasia-ectodermal dysplasia-brachydactyly-cardiac anomaly syndrome · TEBC syndrome

ORPHA:708019

Contractures-ectodermal dysplasia-cleft lip/palate syndrome

Ladda-Zonana-Ramer syndrome

ORPHA:1484

Dysraphism-cleft lip/palate-limb reduction defects syndrome

Medeira-Dennis-Donnai syndrome

ORPHA:2476

Ectodermal dysplasia syndrome

Ectodermal dysplasia

ORPHA:79373

Ectodermal dysplasia-blindness syndrome

ORPHA:1806

Ectodermal dysplasia-hyperhidrosis-cutaneous syndactyly syndrome

ORPHA:247827

Ectodermal dysplasia-pili torti-cutaneous syndactyly syndrome

ORPHA:247820

Ectodermal dysplasia-sensorineural deafness syndrome

Ectodermal dysplasia-sensorineural hearing loss syndrome

ORPHA:1883

Ectodermal dysplasia-skin fragility syndrome

McGrath syndrome

ORPHA:158668

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

EEM syndrome

Ectodermal dysplasia-ectrodactyly-macular dystrophy syndrome

ORPHA:1897

Fibular aplasia-ectrodactyly syndrome

ORPHA:1118

Gordon syndrome

Distal arthrogryposis type 3 · Distal arthrogryposis type IIA

ORPHA:376

Hartsfield syndrome

Holoprosencephaly-ectrodactyly-cleft lip/palate syndrome

ORPHA:2117

Huriez syndrome

Palmoplantar keratoderma-sclerodactyly syndrome · Palmoplantar hyperkeratosis-sclerodactyly syndrome

ORPHA:384

Juberg-Hayward syndrome

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

ORPHA:2319

Keratosis palmaris et plantaris-clinodactyly syndrome

Palmoplantar keratoderma-clinodactyly syndrome

ORPHA:86919

Lelis syndrome

Ectodermal dysplasia-acanthosis nigricans syndrome

ORPHA:140936

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

Mononen-Karnes-Senac syndrome

Skeletal dysplasia-brachydactyly syndrome

ORPHA:2565

Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome

Ectodermal dysplasia-short stature syndrome · Short stature-nail dysplasia-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome

ORPHA:423454

OBSOLETE: Blepharoptosis-cleft palate-ectrodactyly-dental anomalies syndrome

OBSOLETE: Rodini-Richieri Costa syndrome

ORPHA:1258

OBSOLETE: Cleft lip/palate-ectodermal dysplasia syndrome

ORPHA:320317

OBSOLETE: Ectodermal dysplasia-absent dermatoglyphs syndrome

OBSOLETE: Basan syndrome

ORPHA:1235

OBSOLETE: Tricho-oculo-dermo-vertebral syndrome

OBSOLETE: Ectodermal dysplasia-cataracts-kyphoscoliosis syndrome · OBSOLETE: Alves-dos Santos-Castelo syndrome

ORPHA:3354

Odonto-onycho-hypohidrotic dysplasia-midline scalp defects syndrome

Ectodermal dysplasia-adrenal cyst syndrome · Tuffli-Laxova syndrome

ORPHA:3391

Orofaciodigital syndrome type 6

Joubert syndrome with oral-facial-digital syndrome · OFD6

ORPHA:2754

Rapp-Hodgkin syndrome

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

ORPHA:3022

Syngnathia-cleft palate syndrome

ORPHA:3263

Tibial aplasia-ectrodactyly syndrome

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

ORPHA:3329