Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.


A form of orofaciodigital syndrome, a group of heterogeneous disorders characterized by malformations of the oral cavity, face and digits, and associated phenotypic abnormalities that lead to the delineation of various subtypes. OFD16 features include postaxial polydactyly of the hands and feet, multiple tongue cysts, and dysmorphic features, including frontal narrowing, short palpebral fissures, flat nasal bridge, retrognathia, and low-set ears. Neurologic features include delayed psychomotor development and severe cognitive impairment. OFD16 inheritance is autosomal recessive.




Oral-facial-digital syndrome, type XVI
Orofaciodigital syndrome XVI




Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice.

Cookie policy

We would like to use anonymized google analytics cookies to gather statistics on how is used in aggregate. Learn more

UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health