Rare Disease Library

Shprintzen-Goldberg syndrome

Marfanoid craniosynostosis syndrome · SGS

Cole-Carpenter syndrome

Bone fragility-craniosynostosis-proptosis-hydrocephalus syndrome

Craniosynostosis

Craniosynostosis-anal anomalies-porokeratosis syndrome

CAP syndrome · CDAGS syndrome

Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome

Braddock-Jones-Superneau syndrome

Craniosynostosis-dental anomalies

Kreiborg-Pakistani syndrome

Craniosynostosis-dysmorphism-brachydactyly syndrome

Glass-Chapman-Hockley syndrome

Craniosynostosis-facial dysmorphism-brachydactyly syndrome

TCF12-related syndromic craniosynostosis

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

ERF-related syndromic craniosynostosis

Craniosynostosis-intracranial calcifications syndrome

Longman-Tolmie syndrome

Craniosynostosis-skeletal and cerebellar anomalies-learning disabilities syndrome

ZIC1-related syndromic craniosynostosis

Craniosynostosis, Boston type

Craniosynostosis, Warman type · Warman-Mulliken-Hayward syndrome

Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome

Beare-Stevenson cutis gyrata syndrome

Cutis laxa-Marfanoid syndrome

Furlong syndrome

Marfanoid habitus-craniosynostosis syndrome

Gómez-López-Hernández syndrome

Cerebellotrigeminal-dermal dysplasia syndrome · Craniosynostosis-alopecia-brain defect syndrome

Holoprosencephaly-craniosynostosis syndrome

Camero-Lituania-Cohen syndrome · Genoa syndrome

Jackson-Weiss syndrome

Craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome · JWS

Marfan syndrome

MFS

Marfanoid syndrome, De Silva type

Non-syndromic bicoronal and metopic craniosynostosis

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

Non-syndromic bicoronal and sagittal craniosynostosis

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

Non-syndromic bicoronal craniosynostosis

Isolated synostotic brachycephaly · Isolated bicoronal craniosynostosis

Non-syndromic bilambdoid and sagittal craniosynostosis

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

Non-syndromic bilambdoid craniosynostosis

Isolated bilambdoid craniosynostosis · Non-syndromic bilateral lambdoid synostosis

Non-syndromic craniosynostosis

Isolated craniosynostosis

Non-syndromic metopic and sagittal craniosynostosis

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

Non-syndromic metopic craniosynostosis

Isolated metopic craniosynostosis · Non-syndromic metopic suture synostosis

Non-syndromic multisutural craniosynostosis

Isolated multisutural craniosynostosis · Non-syndromic multiple suture synostosis

Non-syndromic non-specific multisutural craniosynostosis

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

Non-syndromic sagittal craniosynostosis

Isolated scaphocephaly · Isolated sagittal craniosynostosis

Non-syndromic unicoronal and sagittal craniosynostosis

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

Non-syndromic unicoronal craniosynostosis

Isolated unicoronal craniosynostosis · Non-syndromic unilateral coronal synostosis

Non-syndromic unifrontosphenoidal craniosynostosis

Isolated unifrontosphenoidal craniosynostosis · Non-syndromic unilateral frontosphenoidal suture synostosis

Non-syndromic unilambdoid craniosynostosis

Isolated unilamboid craniosynostosis · Non-syndromic unilateral lambdoid synostosis

Non-syndromic unisquamosal craniosynostosis

Isolated unisquamosal craniosynostosis · Non-syndromic unilateral squamosal suture synostosis

Non-syndromic unisutural craniosynostosis

Isolated unisutural craniosynostosis · Non-syndromic single suture synostosis

OBSOLETE: Craniosynostosis syndrome or cranial ossification disease

OBSOLETE: Craniosynostosis-cataract syndrome

OBSOLETE: Craniosynostosis-fibular aplasia syndrome

OBSOLETE: Lowry syndrome

Osteosclerosis-developmental delay-craniosynostosis syndrome

Piepkorn dysplasia

Short ribs-craniosynostosis-polysyndactyly syndrome

Syndromic craniosynostosis