Oculodentodigital syndrome

background

Oculodentodigital syndrome (ODD) is a form of ectodermal dysplasia that affects the outer layer of a developing baby called the ectoderm. Because the ectodermal layer develops into many parts of the baby's body, including the lens of the eye, parts of the inner ear, fingers, toes, and nerves, these parts may not develop normally. ODD is an inherited genetic condition that usually affects the eyes, teeth, and fingers.
ODD is an extremely rare disease. Only 243 cases have been reported, suggesting an incidence of about one in 10 million. Males and females appear to be affected equally.
People with ODD tend to have small eyes, a long thin nose, underdeveloped or missing teeth, abnormal hair growth, and finger problems.
In addition to small eyes, people with ODD may have abnormally small corneas and may be at higher risk for cataracts, iris atrophy (which includes distortion of the pupil, breakdown of the iris, and holes in the iris), and glaucoma. People with ODD may have hair that is fine, thin, dry, fragile, or in some families, curly. Dental problems associated with ODD include missing or underdeveloped teeth, poor enamel development, and vulnerability to cavities. ODD also affects the hands and feet, most commonly the fourth and fifth fingers. Hand and foot disorders may include camptodactyly, a flexion disorder; syndactyly, fused fingers or toes; and missing phylanges, the small bones that make up the fingers and toes.
Older people with ODD may have neurological abnormalities, including impaired movement or loss of movement, brain abnormalities, deafness, lack of muscular coordination, a degenerative nerve disorder affecting the legs, difficulty controlling the eyes, and bladder and bowel conditions. Such neurological changes may appear earlier in each subsequent generation of people with ODD.
There is currently no known cure for ODD but some symptoms may be treated to improve the patient's quality of life.

Related Terms

Autosomal dominant disorder, camptodactyly, dento-oculo-osseous dysplasia, oculo-dento-digital syndrome, oculodentodigital dysplasia, oculo-dento-osseous dysplasia, oculodentoosseous dysplasia, ODD, ODDD, ODOD, osseous-oculo-dento dysplasia, paresis, syndactyly.