/orofaciodigital syndrome VIII

orofaciodigital syndrome VIII

Rare Disease

MONDO:0010336

Also Known As

OFD8oral-facial-digital syndrome type 8oral-facial-digital syndrome, Edwards typeorofaciodigital syndrome VIIIorofaciodigital syndrome VIII, X-linked recessiveorofaciodigital syndrome type VIIIorofaciodigital syndrome, Edwards typeOFD syndrome 8Ofds 8oral facial digital syndrome 8oral facial digital syndrome type 8oral-Facial-digital syndrome with hypoplastic Epiglottisoral-Facial-digital syndrome, type 8orofaciodigital syndrome 8orofaciodigital syndrome type 8

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.