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 ×

Focal facial dermal dysplasia type II

FFDD type II · FFDD2

ORPHA:398173

Focal facial dermal dysplasia

FFDD

ORPHA:398166

Focal facial dermal dysplasia type I

Bitemporal aplasia cutis congenita · Brauer syndrome

ORPHA:79133

Focal facial dermal dysplasia type III

FFDD type III · FFDD3

ORPHA:1807

Focal facial dermal dysplasia type IV

FFDD type IV · FFDD4

ORPHA:398189

Isolated focal cortical dysplasia type II

Cortical dysplasia, Taylor type · FCD type II

ORPHA:268994

Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome

Berlin syndrome · Ectodermal dysplasia, Berlin type

ORPHA:1816