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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
Orpha Number: 2755
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.
Increased susceptibility to respiratory infections has been noted.
X-linked recessive transmission has been suggested, but the causative gene has not yet been identified.
Visit the Orphanet disease page for more resources.
Source: GARD Last updated on 05-01-20
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