Craniolenticulosutural dysplasia (Q55539)
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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 |
|---|---|---|---|
| default for all languages | ID_970423180 |
||
| 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. |
Statements
CID11:ID_970423180
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dki-india-ID_970423180
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Concluído
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13 August 2026
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