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Orofaciodigital syndrome type 8
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.
ORPHA:2755Classification level: Disorder
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.
A summary on this disease is available in Deutsch (2009) Español (2009) Français (2009) Italiano (2009) Nederlands (2009) Português (2009)
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