Orofaciodigital syndrome type 8

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Orofaciodigital syndrome type 8

Synonyms: OFD8 | Oral-facial-digital syndrome type 8 | Oral-facial-digital syndrome, Edwards type | Orofaciodigital syndrome, Edwards type

Oral-facial-digital syndrome type 8 is characterized by tongue lobulation hypoplasia of the epiglottis median cleft upper lip broad or bifid nasal tip hypertelorism or telecanthus bilateral preaxial and postaxial polydactyly abnormal tibiae and/or radii duplication of the halluces short stature and mild intellectual deficit.

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 April 2024

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Orofaciodigital syndrome type 8?

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