Rare Disease Library

Gómez-López-Hernández syndrome

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

Craniosynostosis

Craniosynostosis-anal anomalies-porokeratosis syndrome

CAP syndrome · CDAGS 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

Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome

Beare-Stevenson cutis gyrata syndrome

Furlong syndrome

Marfanoid habitus-craniosynostosis syndrome

Holoprosencephaly-craniosynostosis syndrome

Camero-Lituania-Cohen syndrome · Genoa syndrome

Non-syndromic bicoronal craniosynostosis

Isolated synostotic brachycephaly · Isolated bicoronal craniosynostosis

Non-syndromic bilambdoid craniosynostosis

Isolated bilambdoid craniosynostosis · Non-syndromic bilateral lambdoid synostosis

Non-syndromic craniosynostosis

Isolated craniosynostosis

Non-syndromic metopic craniosynostosis

Isolated metopic craniosynostosis · Non-syndromic metopic suture synostosis

Non-syndromic sagittal craniosynostosis

Isolated scaphocephaly · Isolated sagittal craniosynostosis

Non-syndromic unicoronal craniosynostosis

Isolated unicoronal craniosynostosis · Non-syndromic unilateral coronal synostosis

Non-syndromic unisutural craniosynostosis

Isolated unisutural craniosynostosis · Non-syndromic single suture synostosis

OBSOLETE: Craniosynostosis-cataract syndrome

OBSOLETE: Craniosynostosis-fibular aplasia syndrome

OBSOLETE: Lowry syndrome

Osteosclerosis-developmental delay-craniosynostosis syndrome

Piepkorn dysplasia

Short ribs-craniosynostosis-polysyndactyly syndrome

Shprintzen-Goldberg syndrome

Marfanoid craniosynostosis syndrome · SGS

Syndromic craniosynostosis