Craniolenticulosutural dysplasia (Q55539): Difference between revisions
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Revision as of 03:11, 14 August 2026
Craniolenticulosutural dysplasia, also known as Boyadjiev-Jabs syndrome, is characterised by the specific association of large and late-closing fontanels, hypertelorism, early-onset cataract and mild generalised skeletal dysplasia.
| Language | Label | Description | Also known as |
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| default for all languages | ID_970423180 |
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| English | Craniolenticulosutural dysplasia |
Craniolenticulosutural dysplasia, also known as Boyadjiev-Jabs syndrome, is characterised by the specific association of large and late-closing fontanels, hypertelorism, early-onset cataract and mild generalised skeletal dysplasia. |
