What are the other Names for this Condition? (Also known as/Synonyms)

• Meyer-Schwickerath Syndrome
• Oculo-Dento-Osseous Dysplasia (ODOD)
• Osseous-Oculo-Dento Dysplasia

What is Oculo-Dento-Digital Dysplasia? (Definition/Background Information)

• Oculo-Dento-Digital Dysplasia (ODDD) is a condition that affects the eyes, teeth, and fingers. Individuals affected by this condition commonly have abnormalities of the eye (small eyes, vision loss), teeth (small teeth, weak enamel, early tooth loss), and skin web between fingers
• Oculo-Dento-Digital Dysplasia can affect men and women and may be inherited as a dominant trait or be caused by a random mutation. There are also cases of recessive genes causing ODDD
• Individuals with a family history of Oculo-Dento-Digital Dysplasia are at an increased risk. However, individuals with mutations may not express the common symptoms. The signs and symptoms can vary from one individual to another
• Symptoms of ODDD are usually observed during the early stages of life. The eye complications caused by Oculo-Dento-Digital Dysplasia may cause higher risk for cataracts, iris atrophy (distortion of pupil/complications of iris), and glaucoma, which will interfere with vision. It may also create vulnerabilities for dental cavities and neurological abnormalities
• Currently, there is no concrete cure for Oculo-Dento-Digital Dysplasia. The treatment relies on prevention of complications, relieving symptoms, and tending any other medical issues that may arise
• The outcome of Oculo-Dento-Digital Dysplasia is generally poor. Long term effects can include development abnormalities and vision loss. Nevertheless, the prognosis depends on the severity of the condition. Individuals with mild ODDD generally have a better prognosis than those with severe signs and symptoms

Who gets Oculo-Dento-Digital Dysplasia? (Age and Sex Distribution)

• Oculo-Dento-Digital Dysplasia is a very rare disorder with only 100-200 cases currently reported in medical writings. The chances of obtaining it are 1 in 10 million
• The disorder is congenital and therefore manifested at birth
• Both male and female genders are affected
• Individuals of all races and ethnic groups are susceptible

What are the Risk Factors for Oculo-Dento-Digital Dysplasia? (Predisposing Factors)

Oculo-Dento-Digital Dysplasia, being very rare, does not have any well-established risk factors, besides genetics.

• Individuals with a family history of ODDD have an increased risk of developing the disorder
• Individuals who carry a copy of a mutated gene known to cause ODDD are also at an increased risk 

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases ones chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others. 

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Oculo-Dento-Digital Dysplasia? (Etiology)

Although the exact cause of Oculo-Dento-Digital Dysplasia remains unknown, it believed to be caused in the following manner:

• Oculo-Dento-Digital Dysplasia can be inherited as an autosomal dominant trait. Rarer forms of ODDD can occur if an individual inherits multiple copies of the mutated gene
• Some cases of ODDD are inherited as an autosomal recessive trait, wherein both parents are carriers of the condition
• Another possible cause of ODDD is a random mutation. There is evidence that such mutations occur with older fathers, suggesting a mutation occurring in their sperm at an older age, which then gets passed on to their offspring
• The mutation occurs in the GJA1 gene, which is on chromosome 6. It is specified to be in between q21 - q23.2 of the arm of this chromosome; this refers to the region between the bands at these locations

Autosomal dominant: Autosomal dominant conditions are traits or disorders that are present when only one copy of the mutation is inherited on a non-sex chromosome. In these types of conditions, the individual has one normal copy and one mutant copy of the gene. The abnormal gene dominates, masking the effects of the correctly function gene. If an individual has an autosomal dominant condition, the chance of passing the abnormal gene on to their offspring is 50%. Children, who do not inherit the abnormal gene, will not develop the condition or pass it on to their offspring.

Autosomal recessive: Autosomal recessive conditions are traits or disorders that occur when two copies of an abnormal gene have been inherited on a non-sex chromosome. If both parents have an autosomal recessive condition, there is a 100% likelihood of passing on the mutated genes to their children. If, however, only one mutant copy of the gene is inherited, the individual will be a carrier of the condition, but will not be present with any symptoms. Children, born to two carriers, have a 25% chance of being homozygous dominant (unaffected), a 50% chance of being heterozygous (carrier), and a 25% chance of being homozygous recessive (affected). 

What are the Signs and Symptoms of Oculo-Dento-Digital Dysplasia?

The signs and symptoms of Oculo-Dento-Digital Dysplasia are usually observed early in life. The following may be noted:

• Individuals usually have smaller eyes, a long thin nose, missing or underdeveloped teeth, abnormal hair growth, and webbing between the 4th and 5th fingers
• Affected individuals may also have abnormally small corneas and face a higher risk of cataracts (clouding of the normally clear lens of the eye), glaucoma (a group of eye conditions that can cause vision loss), and iris atrophy (which is the distortion of pupil and breakdown or holes in the iris)
• Missing or underdeveloped teeth; the affected individuals may also have poor enamel development (the enamel covers the outer layer of each tooth), and increased vulnerability to dental cavities
• Signs and symptoms of ODDD involving the hands and feet may include camptodactyly (one or more fingers are permanently bent), syndactyly (fusion of fingers or toes), and missing phalanges (phalanges are the bones forming the fingers and toes)
• Neurological abnormalities: These conditions may include impaired or complete loss of movement, loss of hearing, poor muscle coordination, abnormal white brain matter (observed on radiological studies of the brain), nerve disorders, poor control of the eyes
• Bowel and bladder abnormalities

How is Oculo-Dento-Digital Dysplasia Diagnosed?

Generally, Oculo-Dento-Digital Dysplasia is diagnosed through observation of external manifestations in the affected individual such as the teeth, eyes, nose, fingers and toes. The diagnostic process may include the following tests and exams:

• Complete physical exam, assessment of signs and symptoms, and evaluation of medical history (including family history)
• Genetic testing for the mutation can help identify and indicate changes in chromosomes, genes, and proteins. Genetic testing can be used to find any changes in a gene/chromosome of interest, which can be then used to take a closer look at the inherited traits and perform a diagnosis
• A test that can be used to appropriately diagnose ODDD is amniocentesis. This medical test involves the deliberate removal of fluid from the amniotic sac around the fetus. The fluid is then analyzed for the presence of chromosome, gene, or protein abnormalities

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Oculo-Dento-Digital Dysplasia?

The complications of Oculo-Dento-Digital Dysplasia may include the following:

• The presence of small eyes can cause complications including vision loss and interfere with reading. Small corneas can cause an increased risk for eye conditions such as iris atrophy, glaucoma, and cataracts
• Dental complications include weak enamel and an increased susceptibility to cavities
• Older adults with ODDD may have severe neurological abnormalities

How is Oculo-Dento-Digital Dysplasia Treated?

Currently, there are no known cures for Oculo-Dento-Digital Dysplasia. The treatment for ODDD, therefore, includes pain relief, preventing complications, and counseling the affected families. A symptomatic treatment may involve:

• For eye-related abnormalities:
  • Cataracts may be corrected through surgery or cause the need for artificial lens
  • Glaucoma can be treated through laser treatments, surgery, and/or prescription eye drops
  • Special eyeglasses may be worn for small eyes causing vision defects
• The dental issues that arise with ODDD is treated through simple routine dental care or sometimes with dental fillings and crowns, or root canal procedures
• For webbed fingers or feet, it is possible to surgically remove the webbing to enable better mobility. Also, physical therapy and exercise can help address movement disorders

How can Oculo-Dento-Digital Dysplasia be Prevented?

• Currently, there are no specific methods or guidelines to prevent Oculo-Dento-Digital Dysplasia, since it is a genetic condition
• Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus during pregnancy) may help in understanding the risks better during pregnancy
• If there is a family history of the condition, then genetic counseling will help assess risks before planning for a child
• Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders such as Oculo-Dento-Digital Dysplasia
• Regular medical screening at periodic intervals with tests and physical examinations are strongly recommended

What is the Prognosis of Oculo-Dento-Digital Dysplasia? (Outcomes/Resolutions)

• Currently, since there is no specific treatment for Oculo-Dento-Digital Dysplasia and the prognosis is typically poor
• The disorder most likely leads to vision, dental, and neurological abnormalities, especially in older males
• Although there is no cure for Oculo-Dento-Digital Dysplasia, certain measures can be taken to improve the quality of life. These measures may include physical therapy, surgery, use of special eyeglasses, and proper dental care
• Nevertheless, the prognosis depends on the severity of the signs and symptoms; individuals with milder ODDD have a better prognosis than those with severe disorder

Additional and Relevant Useful Information for Oculo-Dento-Digital Dysplasia:

Please visit our Congenital & Genetic Disorders Health Center for more physician-approved health information:

http://www.dovemed.com/diseases-conditions/congenital-genetic-disorders/