What is ODDD or Oculodentodigital Dysplasia with Cerebral White Matter Abnormalities?
ODDD is an extremely rare genetic condition. It is considered to be a type of ectodermal dysplasia.
What Are the Symptoms of ODDD?
- Small teeth that are prone to cavities due to underdeveloped tooth enamel
- Long, thin nose
- Unusually small eyes
- Type III syndactyly of the fourth and fifth fingers
- Iris atrophy and glaucoma
- Fine, thin, dry, or fragile hair
- Neurologic abnormalities may be seen in adults. These might include:
- Abnormal white matter
- Conductive deafness
- Various kinds of paresis including:
- Ataxia
- Spastic paraplegia
- Difficulty controlling the eyes
- Bladder and bowel disturbances
How Do You Get ODDD?
This disorder is typically an autosomal dominant condition, but can be inherited as a recessive trait. It is believed to be caused by a mutation in the GJA1 gene. Most people inherit this condition from one of their parents, but new cases do arise through novel mutations.
How Is ODDD Diagnosed?
This disorder is diagnosed through examination of physical symptoms and MRI.
Is There a Treatment?
There is no known cure. Treatment is symptomatic.