Orofaciodigital syndrome type II (Mohr syndrome): a case report

Abstract

Background Orofacial digital syndrome is a rare genetic disorder with oral cavity, facial and digits anomalies. Orofacial digital syndrome type II, also called the “Mohr syndrome” is a very rare subtype that has been reported scarcely in Asia especially in Japanese patients. Case presentation The case is an Iranian 5-year old girl who had been admitted for orthopedic surgery. She surprisingly had pre and postaxial polydactyly of all the four limbs concurrent with syndromic face and most of the features of Orofaciodigital syndrome type II. Conclusion Mohr syndrome, anesthesia and surgical considerations are discussed in this case report. It is recommended to consider these considerations and the possibility of OFDS in every child with pre and postaxial polydactyly of the four limbs and to try to distinguish type II from other types of ODFS.

Unraveling the Genetic Tapestry: A Case Report on Oro-Facial-Digital Syndrome’s Rare Features Across Generations in a Familial Trilogy

“…Despite the similarities in inheritance patterns and clinical features among the OFDS types, specific genetic investigations are crucial for an accurate diagnosis. The described cases detail symptoms such as thick hair, strabismus, dental overcrowding, post-axial polydactyly, and skeletal deformities [4]. Familial connections reveal similar features across generations.…”

“…OFDS patients may manifest other oro-facial abnormalities such as a bifid nose, cleft lip, and palate, strabismus, a bifid tongue, or a flat nasal bridge, and may experience organ dysfunctions later in life, including cardiovascular and renal anomalies and cerebral malformations impacting the intelligence quotient [3]. The incidence of OFDS is reported at 1 in 50,000 to 1 in 250,000 live births [4].…”