The disorder is characterized by pronounced clinical variability. The main clinical features of the disease include:
Oral abnormalities consisting of: abnormalities of the number and shape of teeth, tongue anomalies, and supernumerary and/or hyperplastic oral frenulae. Clefts of the upper lip and the palate are also reported.
Facial Anomalies with typical appearance manifesting with facial asymmetry, abnormally increased distance between eyes hypertelorism, micrognathia, a characteristic broadened nose with small alae nasi, and an unusually pronounced forehead. Milia covering face and ears can be present at early stages and usually disappear before the third year of life. Hair anomalies can also be present.
Skeletal defects affect bones presenting with abnormalities of the digits (fused, supernumerary, short) and in rare cases of tibia and hips.
Central Nervous System involvement is observed in about half of the cases and include intellectual deficits ranging from mild to moderate and brain malformations. Decreased hearing acuity has been reported in few cases.
Cystic disease. Cysts affecting mainly the kidneys are observed. The age of onset of cystic kidney in OFDI patients is most often in adulthood (second and third decades), but cysts resulting in early renal failure have occasionally been described in children in the first decade of life. In addition to renal cysts, pancreatic, ovarian, and liver cysts have been described.