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"

25 matching diseasesClear search ×

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

Blepharo-cheilo-odontic syndrome

BCD syndrome · Blepharocheilodontic syndrome

ORPHA:1997

Campomelic dysplasia and related disorders

Bent bone dysplasia

ORPHA:93439

Cerebellar ataxia-ectodermal dysplasia syndrome

ORPHA:1174

Cleft lip/palate-ectodermal dysplasia syndrome

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

ORPHA:3253

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

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

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

EEM syndrome

Ectodermal dysplasia-ectrodactyly-macular dystrophy syndrome

ORPHA:1897

Hartsfield syndrome

Holoprosencephaly-ectrodactyly-cleft lip/palate syndrome

ORPHA:2117

Joubert syndrome and related disorders

JSRD

ORPHA:140874

Lewis-Pashayan syndrome

Cleft lip/palate-ectrodactyly syndrome

ORPHA:2389

Marfan syndrome and Marfan-related disorders

ORPHA:284993

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

OBSOLETE: Rodini-Richieri Costa syndrome

ORPHA:1258

OBSOLETE: Cleft lip/palate-ectodermal dysplasia syndrome

ORPHA:320317

Odonto-onycho-hypohidrotic dysplasia-midline scalp defects syndrome

Ectodermal dysplasia-adrenal cyst syndrome · Tuffli-Laxova syndrome

ORPHA:3391

Rapp-Hodgkin syndrome

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

ORPHA:3022