Rare Disease Library

Piepkorn dysplasia

Short ribs-craniosynostosis-polysyndactyly 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-skeletal and cerebellar anomalies-learning disabilities syndrome

ZIC1-related syndromic craniosynostosis

Curry-Jones syndrome

Corpus callosum agenesis-polysyndactyly 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

Non-syndromic bicoronal craniosynostosis

Isolated synostotic brachycephaly · Isolated bicoronal craniosynostosis

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

OBSOLETE: Craniosynostosis-cataract syndrome

Sclerosteosis

Cortical hyperostosis-syndactyly syndrome

Short rib-polydactyly syndrome

Short rib-polydactyly syndrome type 5

Short rib-polydactyly syndrome, Beemer-Langer type

Short rib-polydactyly syndrome type 4

Short rib-polydactyly syndrome, Majewski type

Short rib-polydactyly syndrome type 2

Short rib-polydactyly syndrome, Saldino-Noonan type

Short rib-polydactyly syndrome type 1

Short rib-polydactyly syndrome, Verma-Naumoff type

Short rib-polydactyly syndrome type 3

Shprintzen-Goldberg syndrome

Marfanoid craniosynostosis syndrome · SGS

Syndromic craniosynostosis