Glossary of Diagnoses and Terminology

The answers you desire with the compassion you deserve. Here you will find comprehensive information about congenital anomalies — written for families experiencing the emotional complexities of the diagnosis.

Fraser syndrome

Fraser syndrome is a rare genetic disorder characterized by (1) the partial webbing of the fingers and/or toes, also known as partial syndactyly, (2) genital abnormalities, (3) renal agenesis, dysplasia, or hypoplasia, and (4) the complete fusion of the eyelids called cryptophthalmos. Fraser syndrome is associated with oligohydramnios, polyhydramnios, and echogenic lungs.

The incidence rate for Fraser syndrome is estimated as 1 in 200,000 live births and 1 in 10,000 stillbirths. Fraser syndrome is not always fatal, but when the condition is severe, it is fatal in the perinatal period. The recurrence risk is 25% or 1 in 4, so parental genetic testing and genetic counseling is recommended prior to subsequent pregnancies. [28]