Ontology highlight
ABSTRACT:
SUBMITTER: Dehghan Tezerjani M
PROVIDER: S-EPMC5149501 | biostudies-literature | 2016 Oct
REPOSITORIES: biostudies-literature
Dehghan Tezerjani Masoud M Maroofian Reza R Vahidi Mehrjardi Mohammad Yahya MY Chioza Barry A BA Zamaninejad Shiva S Kalantar Seyed Mehdi SM Nori-Shadkam Mahmoud M Ghadimi Hamidreza H Baple Emma L EL Crosby Andrew H AH Dehghani Mohammadreza M
Iranian journal of public health 20161001 10
Oral-facial-digital syndrome as heterogeneous developmental conditions is characterized by abnormalities in the oral cavity, facial features and digits. Furthermore, central nervous system (CNS) abnormalities can also be part of this developmental disorder. At least 13 forms of OFDS based on their pattern of signs and symptoms have been identified so far. Type 1 which is now considered to be a ciliopathy accounts for the majority of cases. It is transmitted in an X-linked dominant pattern and ca ...[more]