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"

4 matching diseasesClear search ×

Van der Woude syndrome

Cleft lip/palate with mucous cysts of lower lip · Lip-pit syndrome

ORPHA:888

Cleft lip with or without cleft palate

Tessier cleft number 1,2

ORPHA:1991

Cleft lip/palate

Alveolar cleft lip and palate · Cleft lip and palate

ORPHA:199306

Ectrodactyly-ectodermal dysplasia without clefting syndrome

EEC syndrome without cleft lip/palate

ORPHA:1888