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"

14 matching diseasesClear search ×

Focal facial dermal dysplasia type IV

FFDD type IV · FFDD4

ORPHA:398189

Aarskog-Scott syndrome

Aarskog syndrome · Faciodigitogenital syndrome

ORPHA:915

Cranioectodermal dysplasia

CED · Sensenbrenner syndrome

ORPHA:1515

Ectodermal dysplasia syndrome

Ectodermal dysplasia

ORPHA:79373

Ellis Van Creveld syndrome

Chondroectodermal dysplasia · Mesodermic dysplasia

ORPHA:289

Florid cemento-osseous dysplasia

Florid osseous dysplasia · Focal cemento-osseous dysplasia

ORPHA:83451

Focal dermal hypoplasia

Goltz syndrome · Goltz-Gorlin syndrome

ORPHA:2092

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

Isolated focal cortical dysplasia

Epilepsy due to FCD

ORPHA:65683

Oculo-oto-facial dysplasia

ORPHA:77302

Odonto-onycho-dermal dysplasia

OODD

ORPHA:2721