Oral facial digital syndrome


A rare genetic disorder characterized by oral frenula, oral clefts, underdeveloped nose flaps and finger abnormalities.


* Excess mouth frenuli * Enlarged mouth frenuli * Multiple mouth frenuli * Cleft lip * Tongue split in two


The mode of inheritance of OFD syndrome depends on the type of the syndrome. Type I is inherited as an X-linked dominant trait and is only found in females because it is fatal in males. X-linked means that the syndrome is carried on the female sex chromosome, while dominant means that only one parent has to pass on the gene mutation in order for the child to be affected with the syndrome.


Diagnosis is usually made based on the observation of clinical symptoms. There is currently no medical test that can definitively confirm the diagnosis of OFD syndrome, with the exception of genetic screening for OFD syndrome type I.


Prognosis depends on the specific type of OFD syndrome and the symptoms present in the individual. OFD syndrome type I is lethal in males before birth. However, other types of OFD syndrome are found in both males and females. Due to the wide variety of symptoms seen in the nine types of the syndrome, overall survival rates are not available.


Treatment of OFD syndrome is directed towards the specific symptoms of each case. Surgical correction of the oral and facial malformations associated with OFD syndrome is often required.