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"

13 matching diseasesClear search ×

Craniosynostosis, Boston type

Craniosynostosis, Warman type · Warman-Mulliken-Hayward syndrome

ORPHA:1541

Craniosynostosis

ORPHA:1531

Craniosynostosis-dental anomalies

Kreiborg-Pakistani syndrome

ORPHA:284149

Craniosynostosis-facial dysmorphism-brachydactyly syndrome

TCF12-related syndromic craniosynostosis

ORPHA:672979

Craniosynostosis, Herrmann-Opitz type

ORPHA:2145

Craniosynostosis, Philadelphia type

ORPHA:1527

Non-syndromic bicoronal craniosynostosis

Isolated synostotic brachycephaly · Isolated bicoronal craniosynostosis

ORPHA:35099

Non-syndromic craniosynostosis

Isolated craniosynostosis

ORPHA:139390

Non-syndromic metopic craniosynostosis

Isolated metopic craniosynostosis · Non-syndromic metopic suture synostosis

ORPHA:3366

Non-syndromic sagittal craniosynostosis

Isolated scaphocephaly · Isolated sagittal craniosynostosis

ORPHA:35093

OBSOLETE: Craniosynostosis-radial aplasia, Imaizumi type

OBSOLETE: Imaizumi-Kuroki syndrome

ORPHA:1534

Shprintzen-Goldberg syndrome

Marfanoid craniosynostosis syndrome · SGS

ORPHA:2462

Syndromic craniosynostosis

ORPHA:139393