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"

9 matching diseasesClear search ×

Lethal congenital contracture syndrome type 1

Herva disease · LCCS1

ORPHA:1486

Congenital nephrotic syndrome, Finnish type

Finnish congenital nephrosis

ORPHA:839

Fetal akinesia-cerebral and retinal hemorrhage syndrome

Lethal congenital contracture syndrome type 5 · LCCS5

ORPHA:363409

Lethal congenital contracture syndrome

LCCS

ORPHA:294965

Lethal congenital contracture syndrome type 2

LCCS2 · Multiple contracture syndrome, Israeli-Bedouin type

ORPHA:137776

Lethal congenital contracture syndrome type 3

LCCS3

ORPHA:137783

Multiple pterygium syndrome, Aslan type

ORPHA:79446

Multiple synostoses syndrome

Deafness-Hermann type symphalangism syndrome · Facio-audio-symphalangism

ORPHA:3237

Restrictive dermopathy

Lethal restrictive dermopathy · Lethal hyperkeratosis-contracture syndrome

ORPHA:1662