Oculodentodigital dysplasia

Oculodentodigital dysplasia is a condition that affects many parts of the body, particularly the eyes (oculo-), teeth (dento-), and fingers (digital). The signs and symptoms of the condition vary widely among affected individuals. Some features of oculodentodigital dysplasia are evident at birth, while others become apparent with age.

People with oculodentodigital dysplasia often have eye abnormalities that can lead to vision loss. These eye problems can include underdeveloped and small eyes (microphthalmia) and clouding of the lenses of the eyes (cataracts). People with oculodentodigital dysplasia may also have a condition called microcornea, in which the clear front covering of the eye (cornea) is small and abnormally curved. 

The tooth abnormalities seen in people with oculodentodigital dysplasia often include missing or small teeth, weak enamel, and early tooth loss.

The condition can also affect the fingers and toes. Individuals with oculodentodigital dysplasia may have permanently bent fingers (camptodactyly), fingers that are unusually curved (clinodactyly), webbing of the skin (syndactyly) between the fourth and fifth fingers, and syndactyly of the toes,

Individuals who have oculodentodigital dysplasia may also have abnormalities of the head and face (craniofacial anomalies), which can include a narrow nose, a small head size (microcephaly), and an opening in the roof of the mouth (cleft palate).

Less common features of oculodentodigital dysplasia include sparse hair growth (hypotrichosis); brittle nails; and a skin condition called palmoplantar keratoderma that causes the skin on the palms of the hands and the soles of the feet to become thick, scaly, and calloused.

Approximately 30 percent of people with oculodentodigital dysplasia experience neurological problems such as a lack of bladder or bowel control (incontinence), difficulty coordinating movements (ataxia), abnormal muscle stiffness (spasticity), and impaired speech (dysarthria). Some affected individuals develop abnormalities of the brain’s white matter that can be detected with medical imaging (leukodystrophy). Hearing loss and heart problems have also been reported in people with oculodentodigital dysplasia.