Oral-facial-digital syndrome type 1 (OMIM #311200) is an X-linked dominant, developmental disorder. Among the 13 described clinical variants of oral-facial-digital syndrome, oral-facial-digital syndrome type 1 is of significance to dermatologists due to presence of congenital milia and hypotrichosis, not described in other variants. Since oral-facial-digital syndrome type 1 is genetically a distinct entity, awareness of these features help to clinically delineate this from other variants.
Matched MeSH terms: Hand Deformities, Congenital/pathology*
Diplopodia is a rare congenital disorder that has not been extensively discussed in textbooks, and case reports appear to be the main source of information. Although the exact cause of diplopodia remains unknown, the presence of extra digits as well as metatarsals and tarsals allows it to be differentiated from pedal polydactyly. Syndactyly refers to the congenital fusion of the digits. Concomitant bilateral syndactyly and diplopodia is extremely unusual, and in this report we describe a case of right diplopodia and left polydactyly combined with bilateral manual syndactyly in a 15-year-old girl who was ultimately treated with through-the-knee amputation. Radiological examination of the right leg revealed tibial hypoplasia and the right foot displayed 8 digits with corresponding metatarsals and tarsals, whereas the left leg revealed 2 extra digits on the medial aspect of the foot with corresponding metatarsal and tarsal bones. Anatomical dissection of the right foot revealed that it was divided into halves consisting of 8 toes with corresponding metatarsals and tarsals, as well as tibial hypoplasia and absence of the great toe. Diplopodia associated with tibial hypoplasia and syndactyly can be treated surgically, and the present case report details the clinical, radiological, and anatomical elements of this rare deformity.
Matched MeSH terms: Hand Deformities, Congenital/pathology