Oculodentodigital syndrome

Oculodentodigital syndrome (ODD syndrome) is an extremely rare genetic condition that typically results in small eyes, underdeveloped teeth, and problems with the fourth and fifth fingers. It has also been called oculo-dento-digital syndrome, oculodentodigital dysplasia (ODDD), and oculodentoosseous dysplasia (ODOD).

Presentation
People with ODD syndrome often have a characteristic appearance. Visible features of the condition include:


 * small teeth that are prone to caries because of underdeveloped tooth enamel;
 * a long, thin nose;
 * unusually small eyes; and
 * type III syndactyly of the fourth and fifth fingers.

Iris atrophy and glaucoma are more common than average. The size of the eyes often interferes with learning to read; special eyeglasses may be required. Hair may be fine, thin, dry, or fragile; in some families, it is curly.

Neurologic abnormalities may be seen in adults. The neurologic changes may appear earlier in each subsequent generation and can include abnormal white matter, conductive deafness, and various kinds of paresis, including ataxia, spastic paraplegia, difficulty controlling the eyes, and bladder and bowel disturbances.

Genetics
ODD is commonly an autosomal dominant condition, but can be inherited as a recessive trait. 16816024 It is generally believed to be caused by a mutation in the gene GJA1, which codes for the gap junction protein connexin 43. Slightly different mutations in this gene may explain the different way the condition manifests in different families. Most people inherit this condition from their mothers or fathers, but new cases arise through mutation, particularly in older fathers. The mutation has high penetrance and variable expression, which means that nearly all people with the gene show signs of the condition, but these signs can range from very mild to very obvious.

Epidemiology
The actual incidence of this disease is not known, but only 243 cases have been reported in the scientific literature, suggesting an incidence of on the order of one affected person in ten million people.