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 ×

FATCO syndrome

Hecht-Scott syndrome · Fibular aplasia-tibial campomelia-oligosyndactyly syndrome

ORPHA:2492

OBSOLETE: Fibular aplasia-tibial campomelia-oligosyndactyly syndrome

ORPHA:480773

Fibular aplasia-complex brachydactyly syndrome

Du Pan syndrome

ORPHA:2639

Fibular aplasia-ectrodactyly syndrome

ORPHA:1118

Fuhrmann syndrome

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

ORPHA:2854

Mesomelic dysplasia, Savarirayan type

Mesomelic dysplasia with absent fibulas and triangular tibias · Triangular tibia-fibular aplasia syndrome

ORPHA:85170

OBSOLETE: Craniosynostosis-fibular aplasia syndrome

OBSOLETE: Lowry syndrome

ORPHA:1533

Tibial aplasia-ectrodactyly syndrome

Aplasia of tibia with split-hand/split-foot deformity · SHFLD syndrome

ORPHA:3329