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 ×

Juberg-Hayward syndrome

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

ORPHA:2319

Aase-Smith syndrome type 1

Aase-Smith I syndrome · Hydrocephalus-cleft palate-joint contractures syndrome

ORPHA:916

Achalasia-microcephaly syndrome

ORPHA:929

Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome

AEC syndrome · Hay-Wells syndrome

ORPHA:1071

Anonychia-microcephaly syndrome

Teebi-Kaurah syndrome

ORPHA:1094

Aphalangy-syndactyly-microcephaly syndrome

ORPHA:1113

Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome

ORPHA:77300

Bilateral microtia-deafness-cleft palate syndrome

Bilateral microtia-hearing loss-cleft palate syndrome

ORPHA:140963

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

Cleft palate-lateral synechia syndrome

CPLS syndrome

ORPHA:2016

Corpus callosum agenesis-abnormal genitalia syndrome

Proud syndrome · ACC-abnormal genitalia syndrome

ORPHA:2508

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

Hypopituitarism-micropenis-cleft lip/palate syndrome

ORPHA:2243

Lethal omphalocele-cleft palate syndrome

Czeizel syndrome

ORPHA:2736

Lewis-Pashayan syndrome

Cleft lip/palate-ectrodactyly syndrome

ORPHA:2389

Macrosomia-microphthalmia-cleft palate syndrome

Teebi-Al Saleh-Hassoon syndrome

ORPHA:2432

Microbrachycephaly-ptosis-cleft lip syndrome

Richieri Costa-Guion Almeida-Ramos syndrome

ORPHA:2511

Microcephaly-capillary malformation syndrome

MIC-CAP syndrome · MIC-CM syndrome

ORPHA:294016

Microcephaly-cleft palate-abnormal retinal pigmentation syndrome

ORPHA:2521

OBSOLETE: Cleft lip/palate-ectodermal dysplasia syndrome

ORPHA:320317

Say-Barber-Miller syndrome

Microcephaly-hypogammaglobulinemia-abnormal immunity syndrome

ORPHA:3132