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"

6 matching diseasesClear search ×

OBSOLETE: Isolated plagiocephaly

OBSOLETE: Synostotic plagiocephaly · OBSOLETE: Non-syndromic unicoronal synostosis

ORPHA:35098

Non-syndromic bicoronal craniosynostosis

Isolated synostotic brachycephaly · Isolated bicoronal craniosynostosis

ORPHA:35099

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

OBSOLETE: Craniosynostosis-synostoses-hypertensive nephropathy syndrome

OBSOLETE: Allain-Babin-Demarquez syndrome · OBSOLETE: Acro-cephalo-synostosis

ORPHA:1526

OBSOLETE: Isolated oxycephaly

OBSOLETE: Acrocephaly · OBSOLETE: Hypsicephaly

ORPHA:63440