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Orofaciodigital syndrome type 4
Oral-facial-digital syndrome, type 4 is characterized by lingual hamartoma, postaxial polysyndactyly of hands and feet, and mesomelic shortening of the legs with supinate equinovarus feet.
ORPHA:2753Classification level: Disorder
Approximately 15 cases have been reported so far.
Additional features include hypoplastic mandible, micrognathia, cleft palate, prominent eyes, low-set ears and normal intelligence.
The causative gene has not yet been identified.
Autosomal recessive inheritance has been suggested.
A summary on this disease is available in Deutsch (2009) Español (2009) Français (2009) Italiano (2009) Nederlands (2009) Português (2009)
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