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.