Orofaciodigital syndrome type 11

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Orofaciodigital syndrome type 11

Synonyms: OFD11 | Oral-facial-digital syndrome type 11 | Oral-facial-digital syndrome, Gabrielli type | Orofaciodigital syndrome, Gabrielli type

Orofaciodigital syndrome type 11 is an extremely rare sporadic form of Orofaciodigital syndrome (OFDS; see this term) with only a few reported cases and characterized by facial (blepharophimosis bulbous nasal tip broad nasal bridge downslanting palpebral fissures and low set ears) and skeletal (post-axial polydactyly and fusion of vertebrae) malformations along with severe intellectual disability deafness and congenital heart defects.

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 December 2023

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Orofaciodigital syndrome type 11?

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