SIX2-related frontonasal dysplasia

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SIX2-related frontonasal dysplasia

Synonyms: SIX2-related FND

A rare frontonasal dysplasia characterized by a craniofacial phenotype comprising frontal bossing with high anterior hairline ptosis hypertelorism epicanthus inversus flat nasal bridge and broad nasal tip. Large anterior fontanelle sagittal synostosis and cranial base anomalies have also been described.

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: // Data version September 2023.

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SIX2-related frontonasal dysplasia?

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