Orofaciodigital syndrome type 13

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Orofaciodigital syndrome type 13

Synonyms: Degner syndrome | OFD13 | Oral-facial-digital syndrome type 13

Orofaciodigital syndrome type 13 is a rare subtype of orofaciodigital syndrome with sporadic occurrence characterized by cardiac (mitral and tricuspid valve dysplasia) and neuropsychiatric manifestations (epilepsy depression) in addition to oral facial and digital malformations (lingual hamartomas cleft lip brachydactyly clinodactyly syndactyly of hands and feet). Leukoaraiosis on brain MRI examination is also associated.

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 February 2024

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Orofaciodigital syndrome type 13?

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