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 September 2024
Newly diagnosed with
Craniolenticulosutural dysplasia?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
Advocacy Organizations
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Don't see your organization here. Let us know here.
Clinical Trials
For a list of clinical trials in this disease area, please click here.