Rare Diseases and Orphan Drugs

Rare Oral Diseases

The oral Oral-facial-advanced syndrome is a broad term for no less than 10 obviously unique hereditary disorders that are described by irregularities and flaws in the improvement of the structure of the oral cavity including the mouth, tongue, teeth, and jaw; the advancement of the facial structures including the head, eyes, and nose; and the fingers and toes; alongside varying degrees of mental disorder. The presentation of signs and symptoms is extremely varied, making the diagnosis difficult. OFDS type I (Papillon-Leage-Psaume syndrome) is the most common of all of these disorders, and it is quite rare. OFDS type I is associated with a mutation on the X chromosome of a gene designated CXORF5 and in most cases, it is believed, the mutation occurs randomly (sporadic). Other rare oral diseases include Odontoma dysphagia syndrome, Tricodento-osseous syndrome, Oral sub mucous fibrosis, Bam forth syndrome, Dentin dysplasia sclerotic bones. Undiagnosed diseases also are of prior importance. The symptoms of these diseases can be useful for the current researchers for their diagnosis.