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"

12 matching diseasesClear search ×

Restrictive dermopathy

Lethal restrictive dermopathy · Lethal hyperkeratosis-contracture syndrome

ORPHA:1662

Arthrogryposis-hyperkeratosis syndrome, lethal form

Johnston-Aarons-Schelley syndrome

ORPHA:1485

Fetal akinesia-cerebral and retinal hemorrhage syndrome

Lethal congenital contracture syndrome type 5 · LCCS5

ORPHA:363409

Huriez syndrome

Palmoplantar keratoderma-sclerodactyly syndrome · Palmoplantar hyperkeratosis-sclerodactyly syndrome

ORPHA:384

Hyperkeratosis-hyperpigmentation syndrome

ORPHA:1336

Lethal congenital contracture syndrome

LCCS

ORPHA:294965

Lethal congenital contracture syndrome type 1

Herva disease · LCCS1

ORPHA:1486

Lethal congenital contracture syndrome type 2

LCCS2 · Multiple contracture syndrome, Israeli-Bedouin type

ORPHA:137776

Lethal congenital contracture syndrome type 3

LCCS3

ORPHA:137783

Palmoplantar keratoderma-deafness syndrome

PPK-deafness syndrome · Palmoplantar hyperkeratosis-deafness syndrome

ORPHA:2202

Sclerosteosis

Cortical hyperostosis-syndactyly syndrome

ORPHA:3152

Woolly hair-palmoplantar keratoderma syndrome

Woolly hair-palmoplantar hyperkeratosis syndrome · KWWH type IV

ORPHA:420686