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"

34 matching diseasesClear search ×

Non-syndromic craniosynostosis

Isolated craniosynostosis

ORPHA:139390

Craniosynostosis

ORPHA:1531

Craniosynostosis-dental anomalies

Kreiborg-Pakistani syndrome

ORPHA:284149

Craniosynostosis-facial dysmorphism-brachydactyly syndrome

TCF12-related syndromic craniosynostosis

ORPHA:672979

Craniosynostosis-facial dysmorphism-Chiari-1 malformation-developmental and language delay syndrome

ERF-related syndromic craniosynostosis

ORPHA:647681

Craniosynostosis-skeletal and cerebellar anomalies-learning disabilities syndrome

ZIC1-related syndromic craniosynostosis

ORPHA:672985

Craniosynostosis, Boston type

Craniosynostosis, Warman type · Warman-Mulliken-Hayward syndrome

ORPHA:1541

Craniosynostosis, Herrmann-Opitz type

ORPHA:2145

Craniosynostosis, Philadelphia type

ORPHA:1527

Isolated humero-radial synostosis

Isolated congenital humeroradial fusion

ORPHA:3265

Isolated humero-radio-ulnar synostosis

Isolated congenital humero-radioulnar fusion

ORPHA:3266

Isolated humero-ulnar synostosis

Isolated congenital humeroulnar fusion

ORPHA:94056

Isolated radio-ulnar synostosis

Isolated congenital radioulnar fusion

ORPHA:3269

Isolated tibio-fibular synostosis

Isolated congenital tibiofibular fusion

ORPHA:295028

Non-syndromic bicoronal and metopic craniosynostosis

Isolated bicoronal and metopic craniosynostosis · Non-syndromic bilateral coronal and metopic suture synostosis

ORPHA:620198

Non-syndromic bicoronal and sagittal craniosynostosis

Isolated bicoronal and sagittal craniosynostosis · Non-syndromic sagittal and bilateral coronal synostosis

ORPHA:620205

Non-syndromic bicoronal craniosynostosis

Isolated synostotic brachycephaly · Isolated bicoronal craniosynostosis

ORPHA:35099

Non-syndromic bilambdoid and sagittal craniosynostosis

Non-syndromic sagittal and bilateral lambdoid synostosis · Bilateral lambdoid and sagittal synostosis

ORPHA:1516

Non-syndromic bilambdoid craniosynostosis

Isolated bilambdoid craniosynostosis · Non-syndromic bilateral lambdoid synostosis

ORPHA:620178

Non-syndromic metopic and sagittal craniosynostosis

Isolated metopic and sagittal craniosynostosis · Non-syndromic metopic and sagittal suture synostosis

ORPHA:620192

Non-syndromic metopic craniosynostosis

Isolated metopic craniosynostosis · Non-syndromic metopic suture synostosis

ORPHA:3366

Non-syndromic multisutural craniosynostosis

Isolated multisutural craniosynostosis · Non-syndromic multiple suture synostosis

ORPHA:620152

Non-syndromic non-specific multisutural craniosynostosis

Isolated non-specific multisutural craniosynostosis · Non-syndromic non-specific multiple suture synostosis

ORPHA:620158

Non-syndromic pansynostosis

Isolated pansynostosis · Non-syndromic synostosis of all cranial vault sutures

ORPHA:620212

Non-syndromic sagittal craniosynostosis

Isolated scaphocephaly · Isolated sagittal craniosynostosis

ORPHA:35093

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 unifrontosphenoidal craniosynostosis

Isolated unifrontosphenoidal craniosynostosis · Non-syndromic unilateral frontosphenoidal suture synostosis

ORPHA:620139

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

OBSOLETE: Craniosynostosis-cataract syndrome

ORPHA:1530

Shprintzen-Goldberg syndrome

Marfanoid craniosynostosis syndrome · SGS

ORPHA:2462

Syndromic craniosynostosis

ORPHA:139393