Abstract

Background: Orofaciodigital syndrome type I (OFDS I, MIM 311200) belongs to a heterogenic group of
developmental abnormalities involving the structure of the oral cavity, face and fingers as well
as toes. The incidence amounts to 1 case for 250,000 live births. The main clinical features of OFDS I include: cleft hard and soft palates, submucous cleft (>80%), clefts of the tongue and alveolar ridges, abnormal dentition, syndactyly, clinodactyly of the fifth digit, brachydactyly, pre- and less frequently postaxial polydactyly, unilateral duplication of the thumb and polycystic kidneys. About 57% of the patients exhibit intellectual impairment. In the cases of a more dramatic clinical course there may also occur malformations within the CNS structures such as: pachygyria, agenesis of the corpus callosum, heterotopia of the gray matter, agenesis of the
cerebellum at times co-occurring with Dandy-Walker’s malformation, porencephaly type 2, and also hydrocephalus. Epilepsy is quite often.
Case Report: The authors present two cases of OFD1 syndrome – girls aged 2,5 and 6 months, both with
CNS involvement but highly different clinical presentation.
Conclusions: Although the OFD1 syndrome is not exceedingly rare disorder, the diagnose is sometimes very difficult. While the case 1 represents the typical characteristic of the syndrome, the case 2 needs to be carefully distinguished from other disorders with similar malformations spectrum. That
is why we believe that such additional case reports are still clinically important, in order to improve our understanding of the disorder.

Keywords: OFD1, Polydactyly, Syndactyly, polycystic kidneys, Cleft Palate