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"

5 matching diseasesClear search ×

Femoral-facial syndrome

FFS · FHUFS

ORPHA:1988

Fibulo-ulnar hypoplasia-renal anomalies syndrome

Saito-Kuba-Tsuruta syndrome

ORPHA:2256

Fuhrmann syndrome

Fibular hypoplasia or aplasia-femoral bowing-oligodactyly syndrome · Fuhrmann-Rieger-de Sousa syndrome

ORPHA:2854

Radial deficiency-tibial hypoplasia syndrome

ORPHA:1121

Ulnar hypoplasia-split foot syndrome

Ulnar hypoplasia-lobster-claw deformity of feet syndrome · Van den Berghe-Dequecker syndrome

ORPHA:1122