Polydactyly-myopia syndrome

Autosomal dominant - en

Polydactyly-Myopia Syndrome is a rare genetic disorder characterized by the presence of extra fingers or toes (Polydactyly) and nearsightedness (Myopia). This condition falls under the broader category of congenital anomalies of the limbs and visual impairment disorders. The syndrome is of significant interest in the fields of genetics, pediatrics, and ophthalmology due to its implications for understanding the genetic basis of limb development and vision anomalies.

Symptoms and Characteristics

The primary features of Polydactyly-Myopia Syndrome include:

• Polydactyly: Individuals with this syndrome may have extra fingers or toes. The polydactyly can be preaxial (before the thumb or big toe), postaxial (after the little finger or toe), or mesoaxial (central digits), and can vary in complexity from small, easily removable nubbins to fully formed, functional digits.
• Myopia: Affected individuals exhibit nearsightedness, a condition where distant objects appear blurry while close objects can be seen clearly. The severity of myopia can vary among individuals with the syndrome.

Other possible features of the syndrome may include skeletal anomalies, intellectual disability, and facial dysmorphism. However, these additional features are less consistently observed and may vary widely among affected individuals.

Genetics

Polydactyly-Myopia Syndrome is believed to be inherited in an Autosomal Dominant manner, meaning a single copy of the altered gene in each cell is sufficient to cause the disorder. However, due to the rarity of the syndrome, specific genes associated with the condition have not been conclusively identified. Research into the genetic basis of the syndrome is ongoing, with studies focusing on genes involved in limb development and eye formation.

Diagnosis

Diagnosis of Polydactyly-Myopia Syndrome is primarily based on clinical observation of the syndrome's characteristic features. Genetic testing may be helpful in confirming the diagnosis and understanding the inheritance pattern, but the absence of identified specific genes limits the utility of genetic tests. Prenatal diagnosis through Ultrasound imaging may detect polydactyly, but myopia can only be assessed after birth.

Management and Treatment

Management of Polydactyly-Myopia Syndrome focuses on addressing the individual symptoms present in each case. Surgical intervention may be considered to remove or correct extra digits, especially if they interfere with function or cause discomfort. Myopia is typically managed with corrective lenses or contact lenses. Regular follow-up with a Pediatrician and an Ophthalmologist is recommended to monitor the child's development and vision.

Prognosis

The prognosis for individuals with Polydactyly-Myopia Syndrome largely depends on the severity of the symptoms and the presence of any associated anomalies. With appropriate management, most individuals can lead normal, productive lives.

See Also

• Genetic Disorders
• Congenital Anomalies
• Limb Development
• Visual Impairment