SNP Shot: Genomic Insights

Oculodentodigital dysplasia (ODDD) is a disorder impacting various parts of the body, notably the eyes (oculo-), teeth (dento-), and digits (digital). Individuals with ODDD often present with small eyes (microphthalmia) and other eye anomalies that may impair vision. Dental issues are also prevalent, including small or missing teeth, compromised enamel, numerous cavities, and premature tooth loss. A slender nose and fused skin (syndactyly) between the ring and pinky fingers are frequently observed.

Less frequently, ODDD is associated with sparse hair (hypotrichosis), fragile nails, bent fingers (camptodactyly), webbed toes, a small head circumference (microcephaly), and a cleft palate. Neurological complications can occur in some individuals, manifesting as bladder or bowel incontinence, impaired coordination (ataxia), muscle stiffness (spasticity), hearing impairment, and speech difficulties (dysarthria). A minority of those with ODDD may also develop palmoplantar keratoderma, a skin condition causing thickened, scaly, and calloused skin on the palms of the hands and soles of the feet.

While some characteristics of ODDD are noticeable at birth, others develop over time.

Inheritance:

Typically, ODDD follows an autosomal dominant inheritance pattern. This means that having only one copy of the mutated gene in each cell is enough to cause the condition. An affected individual may inherit the mutation from a parent with ODDD. In other instances, the mutation arises spontaneously in the gene, occurring in individuals with no family history of the disorder. In rarer instances, ODDD is inherited in an autosomal recessive manner, requiring mutations in both copies of the gene in each cell. In such cases, both parents carry one copy of the mutated gene but usually don't exhibit any symptoms of the condition. Fewer than ten cases of autosomal recessive ODDD have been documented.