Category 3 Anomalies Number % Storage disorder 1 Ventricular hypertrophy with 1 placental haematoma Ventricular hypertrophy 1 Cleft palate and lip 1 Synpolydactyly
1 Lymphangioma 1 Total 6 12.2 Table 5.
In humans syndactyly is associated with a mutation in the HoxD-13 gene in a syndrome called synpolydactyly
, where bone fusions and duplications in hands and feet occur .
A 117 kb microdeletion removing HOXD9, HOXD13 and EVX2 causes synpolydactyly
. Am J Hum Genet2002; 70: 547-555.
Although complete duplication of an entire digit can occur, central polydactyly is often hidden within a syndactyly and referred to as synpolydactyly
. Hence, radiographic evaluations of patients with syndactyly are important in identifying these variations of central polydactyly.