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"

8 matching diseasesClear search ×

Focal facial dermal dysplasia type IV

FFDD type IV · FFDD4

ORPHA:398189

Aarskog-Scott syndrome

Aarskog syndrome · Faciodigitogenital syndrome

ORPHA:915

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 II

FFDD type II · FFDD2

ORPHA:398173

Focal facial dermal dysplasia type III

FFDD type III · FFDD3

ORPHA:1807

Oculo-oto-facial dysplasia

ORPHA:77302

Pelviscapular dysplasia

Cousin syndrome · Familial pelvis-scapular dysplasia

ORPHA:93333