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"

20 matching diseasesClear search ×

Schilbach-Rott syndrome

BRSS · Hypotelorism-cleft palate-hypospadias syndrome

ORPHA:2353

Abruzzo-Erickson syndrome

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

ORPHA:921

Bamforth-Lazarus syndrome

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

ORPHA:1226

Cleft lip/palate

Alveolar cleft lip and palate · Cleft lip and palate

ORPHA:199306

Cleft palate-large ears-small head syndrome

Say-Barber-Hobbs syndrome

ORPHA:2013

Cleft palate-lateral synechia syndrome

CPLS syndrome

ORPHA:2016

Dysmorphism-cleft palate-loose skin syndrome

ORPHA:1779

Ectrodactyly-cleft palate syndrome

ECP syndrome

ORPHA:1889

Ectrodactyly-ectodermal dysplasia without clefting syndrome

EEC syndrome without cleft lip/palate

ORPHA:1888

Hypertelorism-hypospadias-polysyndactyly syndrome

Naguib-Richieri-Costa syndrome · Acrofrontofacionasal dysostosis type 2

ORPHA:2211

Hypertelorism-microtia-facial clefting syndrome

Bixler-Christian-Gorlin syndrome · HMC syndrome

ORPHA:2213

Hypopituitarism-micropenis-cleft lip/palate syndrome

ORPHA:2243

Hypospadias-hypertelorism-coloboma and deafness syndrome

Hypospadias-hypertelorism-coloboma and hearing loss syndrome

ORPHA:157788

Lethal omphalocele-cleft palate syndrome

Czeizel syndrome

ORPHA:2736

Lewis-Pashayan syndrome

Cleft lip/palate-ectrodactyly syndrome

ORPHA:2389

OBSOLETE: Lymphedema-cleft palate syndrome

ORPHA:86917

Opitz GBBB syndrome

Hypertelorism-oesophageal abnormality-hypospadias syndrome · Hypospadias-dysphagia syndrome

ORPHA:2745

SPECC1L-related hypertelorism syndrome

Brachycephalofrontonasal dysplasia · Teebi hypertelorism syndrome

ORPHA:1519

Spina bifida-hypospadias syndrome

ORPHA:3176

Syngnathia-cleft palate syndrome

ORPHA:3263