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"

9 matching diseasesClear search ×

Aase-Smith syndrome type 1

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

ORPHA:916

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

Contractures-ectodermal dysplasia-cleft lip/palate syndrome

Ladda-Zonana-Ramer syndrome

ORPHA:1484

Ectrodactyly-cleft palate syndrome

ECP syndrome

ORPHA:1889

Hydrocephaly-tall stature-joint laxity syndrome

Daish-Hardman-Lamont syndrome

ORPHA:2181

Juberg-Hayward syndrome

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

ORPHA:2319

Lethal omphalocele-cleft palate syndrome

Czeizel syndrome

ORPHA:2736

Syngnathia-cleft palate syndrome

ORPHA:3263