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Orofaciodigital syndrome type 8

Synonym(s) OFD8
Oral-facial-digital syndrome type 8
Oral-facial-digital syndrome, Edwards type
Orofaciodigital syndrome, Edwards type
Prevalence <1 / 1 000 000
Inheritance X-linked recessive
Age of onset Infancy
  • Q87.0
  • C0796101
MeSH -
MedDRA -


Disease definition

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.


The syndrome has been described in one family with four affected males in three generations.

Clinical description

Increased susceptibility to respiratory infections has been noted.


X-linked recessive transmission has been suggested, but the causative gene has not yet been identified.

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