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"

7 matching diseasesClear search ×

Cole-Carpenter syndrome

Bone fragility-craniosynostosis-proptosis-hydrocephalus syndrome

ORPHA:2050

Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome

Braddock-Jones-Superneau syndrome

ORPHA:1538

Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome

Berant syndrome · Capra-DeMarco syndrome

ORPHA:171839

Furlong syndrome

Marfanoid habitus-craniosynostosis syndrome

ORPHA:97295

Holoprosencephaly-craniosynostosis syndrome

Camero-Lituania-Cohen syndrome · Genoa syndrome

ORPHA:2163

Shprintzen-Goldberg syndrome

Marfanoid craniosynostosis syndrome · SGS

ORPHA:2462

Syndromic craniosynostosis

ORPHA:139393