Oculodentodigital syndrome

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.

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.

Signs and symptoms

People with oculodentodigital (ODD) syndrome tend to have small eyes, a long thin nose, underdeveloped or missing teeth, abnormal hair growth, and problems with the fourth and fifth fingers.
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. Hair may be 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. Other 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, abnormal white brain matter, deafness, poor muscle coordination, 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.
Symptoms of ODD are generally recognized early in life.

Diagnosis

General: In general, oculodentodigital (ODD) syndrome is diagnosed based on observation of several external characteristics, including those of the eyes, nose, teeth, fingers, and toes.
Genetic testing: Genetic testing is a type of medical test that identifies changes in chromosomes, proteins, or genes. Usually, genetic testing is used to find changes associated with inherited disorders. Genetic testing is available for some types of ectodermal dysplasia but not specifically for ODD syndrome.
Amniocentesis: Amniocentesis is a medical test in which fluid is removed from the sac around the fetus. This fluid is analyzed for the presence of abnormalities in chromosomes, genes, and proteins. Amniocentesis is performed after week 15 of pregnancy. The procedure carries some risk, such as miscarriage, and results may or may not be accurate.

Complications

The small size of the eyes among patients with oculodentodigital (ODD) syndrome often interferes with learning to read, and special eyeglasses may be required. 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. If severe, these conditions may lead to vision loss. Dental problems associated with ODD may include increased vulnerability to cavities. Older people with ODD may have neurological abnormalities.

Treatment

General: There is currently no known cure for oculodentodigital syndrome. Treatment focuses on providing relief of symptoms, preventing complications, and supporting the patient and family.
Glaucoma may be treated with prescription eye drops, surgery, or laser treatments. Cataracts may require replacement with an artificial lens.
Dental problems can be managed by routine preventive dental care, including brushing the teeth twice a day and/or after meals and dental cleanings every six months. For more complicated problems, cavities can be treated with fillings, crowns, or root canals.
Surgery for the hands and feet may improve mobility and functioning. Physical therapy, stretching exercises, and occupational therapy may help those with stiffness and movement disorders.

Integrative therapies

Currently, there is a lack of scientific data on the use of integrative therapies for the treatment or prevention of oculodentodigital syndrome.

Prevention

There is currently no known means of preventing oculodentodigital syndrome. Genetic counseling is a service that provides information and support to individuals who have or may have genetic disorders. During a genetic counseling session, a genetics specialist meets with the individual and/or the individual's family to discuss the potential for having a child with a genetic condition. Genetic counseling is advised for individuals with a family history of ectodermal dysplasia. In many cases, the condition can be diagnosed before birth.

Author information

This information has been edited and peer-reviewed by contributors to the Natural Standard Research Collaboration (www.naturalstandard.com).

Bibliography

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Kelly SC, Ratajczak P, Keller M, et al. A novel GJA1 mutation in oculo-dento-digital dysplasia with curly hair and hyperkeratosis. Eur J Dermatol. 2006;16:241-245.
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Causes

General: The cause of oculodentodigital (ODD) syndrome remains unknown but it is generally believed to be caused by a mutation in the GJA1 gene. This gene is a member of the connexin family and a component of cellular gap junctions. Gap junctions provide channels through which molecules can pass from cell to cell. This gene is particularly active in heart contraction in the developing embryo. Slightly different mutations in this gene may explain the different ways in which this condition is expressed in different people/families.
Inheritance: ODD may be inherited as an autosomal dominant trait, which means that just one copy of the genetic mutation is passed down to the child. If one parent has ODD, there is a 50% chance that his or her child will inherit the condition. If both parents have ODD, there is a 75% chance that the child will inherit the condition. A rarer form of ODD may also be inherited as an autosomal recessive disorder, which means that a person must inherit two copies of the gene (one from each parent) in order to develop the disorder.
Random occurrence: New cases of the condition may arise as the result of mutations. This has been found to be the case with older fathers, which suggests that as a man ages, mutations may occur in his sperm that then pass this condition on to offspring.
Nearly all people that have the gene show some signs of the condition, but these signs and symptoms may range from mild to severe.

Risk factors

Oculodentodigital (ODD) syndrome is extremely rare. The precise incidence is unknown, but only 243 cases of ODD have been reported, suggesting it may occur in 1 in 10 million people.
People with family histories of ODD have an increased risk of developing the disorder. In some cases, a parent may carry a copy of a mutated gene known to cause ODD but may not experience symptoms of the disorder.