Oculodentodigital Syndrome Health Article

Definition

Oculodentodigital syndrome (ODDS) is a relatively rare genetic condition with specific medical findings involving the eyes, skeletal system, brain, dentition, and face.

Description

Most fully described by the German ophthalmologist Dr. Gerard Meyer-Schwickerath and others in 1957, today ODDS is also known as oculodentodigital dysplasia, oculodentooseous dysplasia, and Meyer-Schwickerath syndrome.

People with ODDS experience symptoms differently. Overall, the symptoms usually affect the eyes, teeth, hands, feet, face, bones, hair, and brain.

Common signs of ODDS include a slightly indented nasal bone, thin nose with small nasal openings, thin and upturned nostrils, small eyes with iris abnormalities, small corneas, webbing of the fingers or toes, and weakened enamel on the teeth.

Genetic profile

ODDS is an inherited disorder caused by mutations in GJA1, also known as the connexin-43 gene. This gene is located on chromosome 6.

ODDS is most commonly inherited in an autosomal dominant pattern. In this type, family histories are common and the condition may be present in several generations. A person with ODDS has a 50% of having an affected child. The exact signs and symptoms may vary from person to person, even within the same family.

Instances of autosomal dominant inheritance with no family history also exist, in which a person develops ODDS from a new mutation that occurred by chance during their conception. There are reports of these chance mutations being possibly associated with an older average age for the father.

Rarely, ODDS has been reported to follow an autosomal recessive pattern of inheritance. In this type, there may be no family history and the condition may only show up in one generation. Two parents would have a 25% chance of having another affected son or daughter once their child is diagnosed with ODDS.

In 1997, Shapiro, et al., reported a unique family history of ODDS. In this family, relatives in successive generations had more severe neurological signs of ODDS than their older relatives, and these signs showed up at an earlier age in each successive generation. Loddenkemper, et al., described a similar family history in 2002, again involving neurological symptoms of ODDS. These patterns suggest the genetic phenomenon called anticipation, which has been described in other genetic conditions. The hallmark of anticipation is people with progressively worse symptoms in successive generations of the same family.

Demographics

ODDS occurs worldwide, affecting males and females equally. The exact incidence is not known, but it is not a common condition.

Ocular and facial findings

The formation or appearance of the eyes cannot be treated and typically do not cause medical complications. Glaucoma, however, can lead to vision loss or blindness if left untreated. It may be treated with prescription eye drops, surgery, or laser treatments. The goal of glaucoma treatments is to reduce the pressure within the eye, thereby reducing the risk of damage to the eye structures and subsequent vision loss.

Some cataracts may be treated with surgery to remove the natural lens of the eye using various procedure options. The ophthalmologist will then replace it with a new, clear artificial lens. Some cataracts, especially those present at birth, may not be treatable and also may not cause serious vision problems for the person.

Facial characteristics seen in ODDS are not treatable and usually cause no medical complications.

Dental and mouth findings

People with ODDS have teeth that are prone to decay and cavities. Dentists can treat these to prevent further decay; teeth left untreated may need to be removed if the decay is too severe. Common treatment for cavities can include fillings, crowns, or root canal procedures in more complicated cases.

Those with a cleft lip may have it corrected with a surgery in the first few months of life. A cleft palate can be repaired through stages with surgery, often first happening in the first year of life. These surgeries usually require a multidisciplinary team consisting of a plastic surgeon, pediatric dentist, pediatric anesthesiologist, nurses, dietician/feeding specialist, and social worker.

Skeletal and digital findings

Many of the internal bone changes in people with ODDS cannot be treated. Those with significant webbing between their fingers and toes may find surgery helpful to gain mobility, the use of their digits, or cosmetic improvement. In cases where the bones are not webbed, surgery to separate the fingers or toes may be possible with the help of an orthopedic surgeon and plastic surgeon.

Children with hips that dislocate may require treatment with a harness or splint that keeps the hips in place. If this is not successful, a plaster cast may be necessary. Sometimes surgery by an orthopedic surgeon is needed to replace a hip in more severe cases.