Oculodentodigital dysplasia is a condition that affects many parts of the body, particularly the eyes (oculo-), teeth (dento-), and fingers (digital). Common features in people with this condition are small eyes (microphthalmia) and other eye abnormalities that can lead to vision loss. Affected individuals also frequently have tooth abnormalities, such as small or missing teeth, weak enamel, multiple cavities, and early tooth loss. Other common features of this condition include a thin nose and webbing of the skin (syndactyly) between the fourth and fifth fingers(which I didn’t have).Less common features of oculodentodigital dysplasia include sparse hair growth (hypotrichosis), brittle nails, an unusual curvature of the fingers (camptodactyly), syndactyly of the toes, small head size (microcephaly), and an opening in the roof of the mouth (cleft palate). Some affected individuals experience neurological problems such as a lack of bladder or bowel control, difficulty coordinating movements (ataxia), abnormal muscle stiffness (spasticity), hearing loss, and impaired speech (dysarthria). A few people with oculodentodigital dysplasia also have a skin condition called palmoplantar keratoderma. Palmoplantar keratoderma causes the skin on the palms and the soles of the feet to become thick, scaly, and calloused.
Some features of oculodentodigital dysplasia are evident at birth, while others become apparent with age.
A submucous cleft palate is one type of cleft palate. The word “palate” refers to the roof of the mouth and the term “cleft” indicates a split in the palate. The palate consists of both a bony portion (hard palate) and a muscular portion (soft palate). At the end of the soft palate, the small finger-like projection of tissue that hangs down is called the “uvula”. The term “submucous” refers to the fact that the cleft is covered over by the lining (mucous membrane) of the roof of the mouth. This covering of mucosa makes the cleft difficult to see when looking in the mouth.
A submucous cleft of the soft palate is characterized by a midline deficiency or lack of muscular tissue and incorrect positioning of the muscles. A submucous cleft of the hard palate is defined as a bony defect in the midline or center of the bony palate. This can sometimes be felt as a notch or depression in the bony palate when the palate is palpated with a finger. Often a submucous cleft palate is associated with a bifid or cleft uvula.