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"

11 matching diseasesClear search ×

Non-syndromic unifrontosphenoidal craniosynostosis

Isolated unifrontosphenoidal craniosynostosis · Non-syndromic unilateral frontosphenoidal suture synostosis

ORPHA:620139

Isolated humero-radial synostosis

Isolated congenital humeroradial fusion

ORPHA:3265

Isolated humero-ulnar synostosis

Isolated congenital humeroulnar fusion

ORPHA:94056

Isolated radio-ulnar synostosis

Isolated congenital radioulnar fusion

ORPHA:3269

Non-syndromic bicoronal craniosynostosis

Isolated synostotic brachycephaly · Isolated bicoronal craniosynostosis

ORPHA:35099

Non-syndromic multisutural craniosynostosis

Isolated multisutural craniosynostosis · Non-syndromic multiple suture synostosis

ORPHA:620152

Non-syndromic unicoronal and sagittal craniosynostosis

Isolated unicoronal and sagittal craniosynostosis · Non-syndromic unilateral coronal and sagittal suture synostosis

ORPHA:620186

Non-syndromic unicoronal craniosynostosis

Isolated unicoronal craniosynostosis · Non-syndromic unilateral coronal synostosis

ORPHA:620102

Non-syndromic unilambdoid craniosynostosis

Isolated unilamboid craniosynostosis · Non-syndromic unilateral lambdoid synostosis

ORPHA:620113

Non-syndromic unisquamosal craniosynostosis

Isolated unisquamosal craniosynostosis · Non-syndromic unilateral squamosal suture synostosis

ORPHA:620146

Non-syndromic unisutural craniosynostosis

Isolated unisutural craniosynostosis · Non-syndromic single suture synostosis

ORPHA:620096