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orofaciodigital syndrome VIII

Disease Summary
Associated Targets ()

Mondo Description 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.
Mondo Term and Equivalent IDs
MONDO:0010336:  orofaciodigital syndrome VIII
GARD:0004060: 
MESH:C557820: 
Orphanet:2755: 
SCTID:722106001: