Craniolenticulosutural dysplasia

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Craniolenticulosutural dysplasia

Synonyms: Boyadjiev-Jabs syndrome

Craniolenticulosutural dysplasia (CLSD) also known as Boyadjiev-Jabs syndrome is characterized by the specific association of large and late-closing fontanels hypertelorism early-onset cataract and mild generalized skeletal dysplasia.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version March 2024

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Craniolenticulosutural dysplasia?

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